Mouse mutations reported to cause inner ear malformations or dysfunction

Gene symbols arranged alphabetically: A B C D E F G H I J  K L M N O P Q R S T U V W X Y Z

Double gene knock-outs

Mutations–gene unknown

Gene Symbol  Gene Name Chr cM Mutation Mutation Name Type a Ear Pathology References b 
                 
Acan aggrecan 7 39 cmd cartilage matrix deficiency sp cartilage abnormality Yoo et al. (1991) Ann N Y Acad Sci 630:265.
Actb actin, beta 5 82 conditional KO inner ear inactivation tm stereocilia structure and  maintenance Perrin et al. (2010) PLoS Genetics 6(10):e1001158
Actg1 actin, gamma, cytoplasmic 1 11 79 KO targeted inactivation tm stereocilia structure and maintenance Belyantseva et al. (2009) Proc Natl Acad Sci 106:9703.
Alg10b asparagine-linked glycosylation 10B 15 54 nse5 ENU-induced missense ch outer hair cell dysfunction Probst et al. (2013) PLoS One 26;8(11):e80408
Alms1 Alstrom syndrome 1 homolog 6 36 KO gene trap gt intracellular trafficking Collin et al. (2005) Hum Mol Genet 14:2323.
Ap3d1 adaptor-related protein complex 3, delta 1 subunit 10 43 mh mocha sp otolith defect and cochlear degeneration Lane et al. (1974) J Hered 65:362; Kantheti et al. (1998) Neuron 21:111.
Apaf1 apoptotic protease activating factor 1 10 48 KO targeted inactivation tm inner ear morphogenesis; decreased apoptosis Cecconi et al. (2004) Development 131:2125.
Aqp4 aquaporin 4 18 6 KO  targeted inactivation tm osmotic dysequilibration Li et al. (2001) J Biol Chem 276:31233.
Arsa arylsulfatase A 15 53 KO  targeted inactivation tm loss of spiral ganglion cells D'Hooge et al. (1999) Brain Res 847:352; Coenen et al. (2001) Acta Neuropathol (Berl) 101:491.
Atf2 activating transcription factor 2 2 44 KO  targeted inactivation tm inner ear development Reimold et al. (1996) Nature 379:262.
Atg4b autophagy-related 4B 1 59 KO targeted inactivation tm otoconial biogenesis Marino et al. (2010) J Clin Invest 120:2331.
Atoh1 (Math1) atonal homolog 1 (Drosophila) 6 30 KO  targeted inactivation tm hair cell development; homozygous lethal Bermingham et al. (1999) Science 284:1837.
Atp2b2 (Pmca2) ATPase, Ca++ transporting, plasma membrane 2 6 50 dfw, KO deaf waddler, targeted inactivation sp, tm calcium transport Kozel et al. (1998) J Biol Chem 273:18693; Street et al. (1998) Nat Genet 19:390.
Atp6v0a4 ATPase, H+ transporting, lysosomal V0 subunit A4 6 18 KO targeted inactivation tm endolymphatic pH homeostasis Norgett et al. (2012) Proc Natl Acad Sci USA 109:13775
Atp8b1

ATPase, class I, type 8B, member 1

18 39 KI G308V missense tm

degeneration of cochlear hair cells

Stapelbroek et al. (2009) Proc Natl Acad Sci USA 106:9709.
Axin1 axin 1 17 12 Fu fused sp, ch, tg inner ear development Deol (1966) Genet Res 7:363; Zeng et al. (1997) Cell 90:181.
Barhl1 BarH-like 1 (Drosophila) 2 17 KO  targeted inactivation tm hair cell maintenance Li et al. (2002) Development 129:3523.
Bbs1

Bardet-Biedl syndrome 1

19 4 KO targeted inactivation tm

kinocilia-related planar cell polarity

Ross et al. (2005) Nat Genet 37:1135.
Bbs4 Bardet-Biedl syndrome 4 9 33 KO targeted inactivation tm

kinocilia-related planar cell polarity

Ross et al. (2005) Nat Genet 37:1135.
Bcl2 B cell leukemia/lymphoma 2 1 50 KO targeted inactivation tm malformed stapes, conductive hearing loss Carpinelli et al. (2012) Cell Death Dis 3:e362
Bdnf brain derived neurotrophic factor 2 62 KO  targeted inactivation tm hair cell innervation Jones et al. (1994) Cell 76:989; Bianchi et al. (1996) Development 122:1965.
Bmp4 bone morphogenetic protein 4 14 15 KO  targeted inactivation tm inner ear development; homozygous lethal Winnier et al. (1995) Genes Dev 9:2105; Dunn et al. (1997) Dev Biol 188:235; Blauwkamp et al.(2007)Hear Res 225:71
Bsn bassoon (presynaptic cytomatrix protein) 9 60 KO  targeted inactivation tm IHC synaptic ribbon defect Khimich et al. (2005) Nature 434:889.
Bsnd Bartter syndrome, infantile, with sensorineural deafness 4 52 conditional KO Sox10-Cre tm decreased endocochlear potential Rickheit et al. (2008) EMBO J 27:2907.
Cacna1d  calcium channel, voltage-dependent, L type, alpha 1D subunit 14 8 KO targeted inactivation  tm Ca2+ channel defect; IHC neurotransmitter release Platzer et al. (2000) Cell 102:89.
Cacnb2 calcium channel, voltage-dependent, beta 2 subunit 2 14 KO + transgene knockout plus cardiac-specific transgene tm+ tg Ca2+ channel defect; IHC neurotransmitter release Neef et al. (2009) J Neurosci 29:10730.
Cacng2 calcium channel, voltage-dependent, gamma subunit 2 15 45 stg stargazer sp central nervous system Letts et al. (1998) Nat Genet 19:340; Khan et al. (2004) Neuroscience 127:785.
Caml calcium modulating cyclophilin ligand 13 30 conditional KO Atoh1-Cre, tamoxifen tm cochlear hair cell loss Bryda et al. (2012) Mamm Genome 23:270.
Casp3 caspase 3, apoptosis related cysteine protease 8 26 KO  targeted inactivation tm proliferation of supporting cells; degeneration of sensory cells Takahashi et al. (2001) Brain Res 894:359.; Makishima et al. (2011) BMC Neurosci 12:102.
Cdh23 cadherin 23 10 30 v waltzer sp, ch hair cell defects Deol (1956) Proc R Soc Lond B Biol Sci 145:206; Di Palma et al. (2001) Nat Genet 27:103.
Cdkn1b cyclin-dependent kinase inhibitor 1B (P27) 6 62 KO  targeted inactivation tm supporting/hair cell proliferation Chen et al. (1999) Development 126:1581; Lowenheim et al. (1999) Proc Natl Acad Sci 96:4084.
Cdkn2d cyclin-dependent kinase inhibitor 2D 9 5 KO  targeted inactivation tm hair cell apoptosis Chen et al. (2003) Nat Cell Biol 5:422.
Ceacam16

carcinoembryonic antigen-related cell adhesion molecule 16

7 10 KO targeted inactivation tm tectorial membrane defect Kammerer et al. (2012) J Bio Chem 287:21584.
Celsr1 cadherin EGF LAG seven-pass G-type receptor 1 15 49 Scy, Crsh spin cycle, crash ch planar cell polarity, extension of cochlear duct Curtin et al. (2003) Curr Biol 13:1129.
Cga glycoprotein hormone, alpha subunit 4 11 KO targeted inactivation tm thyroid hormone deficiency Karolyi et al. (2007) Mamm Genome 18:596.
Chd7 chromodomain helicase DNA binding protein 7 4 2 Whl wheels ch inner ear development Alavizadeh et al. (2001) Dev Biol 234:244; Bosman et al. (2005) Hum Mol Genet 14:3463.
Chrna9 cholinergic receptor, nicotinic, alpha 9 5 41 KO  targeted inactivation tm cochlear efferent innervation Vetter et al. (1999) Neuron 23:93; Maison et al. (2002) J Neurosci 22:10838.
Chrnb2 cholinergic receptor, nicotinic, beta 2 3 42 KO  targeted inactivation tm progressive loss of spiral ganglion neurons Bao et al. (2005) J Neurosci 25:3041.
Cisd2 CDGSH iron sulfur domain 2 3 68 KO targeted inactivation tm mitochondrial dysfunction Chen et al. (2009) Genes Dev 23:1183.
Ckb creatine kinase, brain 12 55 KO targeted inactivation tm hair bundle ATP maintenance Shin et al. (2007) Neuron 53:371.
Cldn9 claudin 9 17 9.5 nmf329 ENU-induced mutation ch hair cell degeneration Nakano et al. (PLoS Genet 5(8):e1000610.
Cldn11 claudin 11 3 13 KO  targeted inactivation tm reduced endocochlear potential Gow et al. (2004) J Neurosci 24:7051.
Cldn14 claudin 14 16 67 KO  targeted inactivation tm hair cell degeneration Ben-Yosef et al. (2003) Hum Mol Genet 12:2049.
Clic5 chloride intracellular channel protein 5 17 23 jbg jitterbug sp hair cell degeneration Gagnon et al. (2006) J Neurosci 26:10188.
Clrn1 clarin 1 3 30 KO targeted inactivation tm hair cell degeneration Geng et al. (2009) Hum Mol Genet 18:2748.
Coch coagulation factor C homolog (cochlin) 12 23 KO. KI  targeted inactivation; targeted missense tm unknown Makishima et al. (2005) Hum Genet 118:29; Robertson et al. (2008) Hum Mol Genet 17:3426.
Col11a1 procollagen, type XI, alpha 1 3 53 cho chondrodysplasia sp extracellular matrix Cho et al. (1991) Ann N Y Acad Sci 630:259; Li et al. (1995) Cell 80:423.
Col11a2 procollagen, type XI, alpha 2 17 19 KO  targeted inactivation tm tectorial membrane defect McGuirt et al. (1999) Nat Genet 23:413; Li et al. (2001) Dev Dyn 222:141.
Col1a1 procollagen, type I, alpha 1 11 56 Mov13  transgene inactivation tg   Bonadio et al. (1990) Proc Natl Acad Sci 87:7145; Altschuler et al. (1991) Ann N Y Acad Sci 630:249.
Col2a1 procollagen,
type II,
alpha 1
15 55 Dmm, sedc disproportionate micromelia, spondyloepiphyseal dysplasiacongenita ra sp inner ear malformation unknown Pace et al. (1997) Dev Dyn 208:25; Maddox et al. (1998) J Craniofac Genet Dev Biol 18:195; Donahue et al. (2003) J Bone Miner Res 18:1612.
Col4a3 procollagen, type IV, alpha 3 1 51 KO  targeted inactivation tm basement membrane defects Cosgrove et al. (1998) Hear Res 121:84.
Col9a1 procollagen, type IX, alpha 1 1 15 KO  targeted inactivation tm tectorial membrane defect Suzuki et al. (2005) Neurosci Res 51:293.
Cplx1 complexin 1 5 58 KO targeted inactivation tm endbulb of Held auditory synapse in cochlear nucleus Strenzke et al. (2009) J Neurosci 29:7991.
Cs citrate synthase 10 77 ahl4 spontaneous mutation in A/J strain sp impaired mitochondrial function Johnson et al. (2012) Neurobiol Aging 33:1720. 
Ddr1 discoidin domain
receptor family,
member 1
17 21.5 KO targeted inactivation tm maintenance of inner ear structure and function Meyer Zum Gottesberge et al. (2008) Lab Invest 88:27.

Dfnb59

Pejvakin

deafness, autosomal recessive 59 homolog 2 45  

tm1Ugds

sirtaki

R183 knock-in

ENU null

tm

ch

dysfunction of auditory pathway neurons

outer hair cell defects

Delmaghani et al. (2006) Nat Genet 38:770; Schwander et al. (2007) J Neurosci 27:2163.
Diap3 diaphanous homolog 3 14 44 transgene overexpression tg inner hair cell defects Schoen et al. (2013) PLoS One 2013;8(2):e56520
Dio2 deiodinase, iodothyronine, type II 12 44 KO  targeted inactivation tm delayed cochlear development Ng et al. (2004) Proc Natl Acad Sci U S A 101:347.
Dio3 deiodinase, iodothyronine, type III 12 54 KO targeted inactivation tm accelerated cochlear development Ng et al. (2008) Endocrinology 150:1952.
Dlx1 distal-less
homeobox 1
2 44 KO  targeted inactivation tm middle ear dysfunction Qiu et al. (1997) Dev Biol 185:165; Polley et al. (2006) Hear Res 214:84.
Dlx5 distal-less
homeobox 5
 6  2   KO  targeted inactivation tm  vestibular morphogenesis Acampora et al. (1999) Development 126:3795; Merlo et al. (2002) Dev Biol 248:157.
Dmd dystrophin, muscular dystrophy X 32 mdx X-linked muscular dystrophy sp, ch unknown Raynor et al. (1997) Laryngoscope 107:1053; but see Pillers et al. (1999) Laryngoscope 109:1310.
Duox2 dual oxidase 2 68.5 thyd thyroid dyshormonogenesis sp hypothyroid-related Johnson et al. (2007) Mol Endocrinol 21:1593.
Edn3 endothelin 3 2 104 ls lethal spotting sp, tm melanocyte development Baynash et al. (1994) Cell 79:1277; Edery et al. (1996) Nat Genet 12:442.
Ednrb endothelin receptor type B 14 51 s piebald sp, ch, ra, tm melanocyte development Deol (1967) J Embryol Exp Morphol 17:533; Hosoda et al. (1994) Cell 79:1267.
Efnb2 ephrin-B2 8 2 KO het targeted inactivation tm peripheral auditory dysfunction Miko et al. (2008) Hear Res 235:39.
Elmod1 ELMO domain containing 1 9 30 rda roundabout sp hair cell stereocilia maturation  Johnson et al. (2012) PLoS One 7(4): e36074
Emx2 empty spiracles homolog 2 (Drosophila) 19 54 Pdo pardon ch middle ear ossicles Rhodes et al. (2003) J Neurocytol 32:1143; Holley et al. (2010) Dev Biol 340:547.
Epha4 Eph receptor A4 1 43 KO targeted inactivation tm peripheral auditory dysfunction Miko et al. (2008) Hear Res 235:39.
Ephb1 Eph receptor B1 9 56 KO  targeted inactivation tm cochlear dysfunction Howard et al. (2003) Hear Res 178:118.
Ephb2 Eph receptor B2 4 66 KO targeted inactivation  tm canal endolymph regulation Cowan et al. (2000) Neuron 26:417.
Ephb3 Eph receptor B3 16 15 KO  targeted inactivation tm cochlear dysfunction Howard et al. (2003) Hear Res 178:118.
Eps8 epidermal growth factor receptor pathway substrate 8 6 67 KO targeted inactivation tm stereocilia actin core elongation Manor et al. (2011) Curr Biol 21:167.
Eps8l2 EPS8-like 2 7 87 KO targeted inactivation tm progressive hair bundle degeneration Furness et al. (2013) Proc Natl Acad Sci 110:13898.
Espn Espin 4 80 je jerker sp hair cell defects/stereocilia Deol (1954) J Genet 52:562; Steel et al. (1983) Behav Neurosci 97:381; Zheng et al. (2000) Cell 102:377.
Esr2 estrogen receptor 2 (beta) 12 33 KO targeted inactivation tm progressive hair cell loss Simonoska et al. (2009) J Endocrinol 201:397.
Esrrb estrogen related
receptor,
beta
12 41 KO conditional, targeted inactivation tm endolymph regulation Chen and Nathans (2007) Dev Cell 13:325.
Evi1 ecotropic viral
integration site 1
3 12 Jbo Junbo ch middle ear inflammation Parkinson et al. (2006) PLoS Genet 2:Epub
Eya1 eyes absent 1 homolog (Drosophila) 1 10 bor branchio-oto-renal syndrome homolog sp, tm inner ear development Johnson et al. (1999) Hum Mol Genet 8:645; Xu et al. (1999) Nat Genet 23:113.
Eya4 eyes absent 4
homolog (Drosophila)
10 18 KO targeted inactivation tm abnormal middle ear cavity and eustachian tube Depreux et al. (2008) J Clin Invest 118:651.
Fas Fas antigen (TNF receptor superfamily member) 19 23 lpr lymphoproliferation sp autoimmune Trune et al. (1989) Hear Res 38:57; Ruckenstein et al. (1993) Acta Otolaryngol 113:160.
Fbxo2 F-box protein 2 4 71 KO targeted inactivation tm organ of Corti degeneration Nelson et al. (2007) J Neurosci 27:5163
Fbxo11 F-box protein 11 17 47 Jf Jeff ch middle ear inflammation Hardisty-Hughes et al. (2006) Hum Mol Genet 15:3273.
Fgf3 fibroblast growth factor 3 7 72 KO targeted inactivation tm inner ear development; poor survival Mansour et al. (1993) Development 117:13; Mansour (1994) Mol Reprod Dev 39:62.
Fgfr1 fibroblast growth factor receptor 1 8 10 KO  targeted inactivation tm inner ear development Pirvola et al. (2002) Neuron 35:671.
Fgfr2 fibroblast growth factor receptor 2 7 63 KO  targeted inactivation tm inner ear development Pirvola et al. (2000) J Neurosci 20:6125.
Fgfr3 fibroblast growth factor receptor 3 5 20 KO  targeted inactivation tm pillar cell development Colvin et al. (1996) Nat Genet 12:390.
Fign fidgetin 2 34 fi fidget sp inner ear development Truslove (1956) J Genet 54:64;   Cox et al. (2000) Nat Genet 26:198.
Foxg1 forkhead box G1 12 21 KO targeted inactivation tm inner ear development Pauley et al. (2006) Dev Dyn 235:2470.
Foxi1 forkhead box I1 11 17 KO  targeted inactivation tm endolymphatic dilatation; inner ear development Hulander et al. (1998) Nat Genet 20:374.
Foxo3 forkhead box O3 10 23 KO targeted inactivation tm inner hair cell synaptic transmission Gilels et al. (2013) J Neurosci 33:18409
Fscn2 fascin homolog 2, actin-bundling protein 11 79 ahl8 spontaneous mutation in DBA/2J strain sp hair cell degeneration Shin et al. (2010) J Neurosci 30:9683.
Fzd4 frizzled homolog 4 (Drosophila) 7 44.5 KO  targeted inactivation tm peripheral auditory system Wang et al. (2001) Development 128:5017.
Gata2 GATA-binding protein 2 6 39 KO conditional knockout tm vestibular morphogenesis Haugas et al. (2010) Dev Dyn 239:2452.
Gata3 GATA-binding protein 3 2 7 KO  targeted inactivation201. tm inner ear development Karis et al. (2001) J Comp Neurol 429:615.
Gbx2 gastrulation brain homeobox 2 1 65 KO  targeted inactivation tm inner ear development Lin et al. (2005) Development 132:2309.
Gfi1 growth factor independent 1 5 56 KO  targeted inactivation tm hair cell dfferentiation and survival Wallis et al. (2003) Development 130:221.
Gipc3 GIPC PDZ domain containing family member 3 10 40 ahl5 missense mutation in Black Swiss mice sp stereocilia bundle disruption Charizopoulou et al. (2011) Nat Commun 2:201.
Gjb2 (Cx26) gap junction membrane channel protein beta 2 14 21 KO Conditional knockout, dominant-negative transgene tm, tg organ of Corti degeneration Cohen-Salmon et al. (2002) Curr Biol 12:1106; Kudo et al. (2003) Hum Mol Genet 12:995.
Gjb6 (Cx30) gap junction membrane channel protein beta 6 14 22.5 KO  targeted inactivation tm lack endocochlear potential Teubner et al. (2003) Hum Mol Genet 12:13.
Gjc3 (Cx29) gap junction protein, gamma 3 5 78 KO  targeted inactivation tm demyelination of SG neurons Tang et al. (2006) J Neurosci 26:1991.
Gpr98 (Mass1, Vlgr1) G protein-coupled
receptor 98
13 40 frings,  KO frings mutation,  targeted inactivation sp,  tm hair cell defects, stereocilia Johnson et al. (2005) Genomics 85:582; McGee et al. (2006) J Neurosci 26:6543.
Gpx1 glutathione peroxidase 1 9 57 KO  targeted inactivation tm hearing loss susceptibility Ohlemiller et al. (2000) J Assoc Res Otolaryngol 1:243.
Grid1 glutamate receptor, ionotropic, delta 1 14 14 KO targeted inactivation tm high frequency hearing loss Gao et al. (2007) Mol Cell Biol 27:4500.
Grxcr1 glutaredoxin, cysteine rich 1 5 40 pi, tde pirouette, Tasmanian devil sp, tg thin and short stereocilia Odeh et al. (2010) Am J Hum Genet 86:148.
Gusb glucuronidase, beta 5 72 mps mucopolysaccharidosis sp lysosome storage defect Sands et al. (1995) Blood 86:2033; O'Connor et al. (1998) J Clin Invest 101:1394.
Hes1 hairy and enhancer of split 1 16 27 KO  targeted inactivation tm negative regulator of inner hair cell development Zheng et al. (2000) Development 127:4551; Zine et al. (2001) J Neurosci 21:4712.
Hes5 hairy and enhancer of split 5 4 81.5 KO  targeted inactivation tm negative regulator of outer hair cell development Zine et al. (2001) J Neurosci 21:4712.
Hmx2 H6 homeo box 2 7 65 KO  targeted inactivation tm inner ear development (vestibule) Wang et al. (2001) Development 128:5017.
Hmx3 H6 homeo box 3 7 65 KO  targeted inactivation tm inner ear development (vestibule) Hadrys et al. (1998) Development 125:33; Wang et al. (1998) Development 125:621.
Hgf hepatocyte growth factor 5 4 conditional KO, transgene overexpression tm, tg outer hair cell degeneration Schultz et al. (2009) Am J Hum Genet 85:25.
Hpn (Tmprss1) hepsin
(transmembrane
serine protease 1)
7 14 KO targeted inactivation tm hypothyroid-related cochlear pathology Guipponi et al. (2007) Am J Pathol 171:608.
Ift88

intraflagellar transport 88 homolog

14 21 KO conditional inactivation tm

kinocilia-related planar cell polarity

Jones et al. (2008) Nat Genet 40:69.
Igf1 insulin-like growth factor 1 10 48 KO  targeted inactivation tm delayed inner ear maturation and neuronal loss Camarero et al. (2001) J Neurosci 21:7630.
Irs1 insulin receptor substrate 1 1 57 sml small sp defective IGF1 signaling pathway DeMambro et al. (2010) J Endocrinol 204:241.
Irs2 insulin receptor substrate 2 8 5 KO targeted inactivation tm defective IGF1 signaling pathway Murillo-Cuesta et al. (2012) Mol Med 18:260.
Isl1 ISL1 transcription factor, LIM/homeodomain 13 65 Dsh dearisch, ENU-induced missense mutation ch predisposition to otitis media Hilton et al. (2011) Genome Biol 12(9):R90.
Itga8 integrin alpha 8 2 7 KO targeted inactivation tm stereocilia of utricular hair cells Littlewood Evans et al. (2000) Nat Genet 24:424.
Jag1 jagged 1 2 77 Htu, slalom, KO headturner, slalom, targeted inactivation ch, ch, tm inner ear development; homozgous lethal Xue et al. (1999) Hum Mol Genet 8:723; Zine et al. (2000) Development 127:3373; Kiernan et al. (2001) Proc Natl Acad Sci U S A 98:3873; Tsai et al. (2001) Hum Mol Genet 10:507.
Jag1 is included   2 78 Cm coloboma deletion ra inner ear development Hess et al. (1994) Genomics 21:257.
Jag2 jagged 2 12 58 KO  targeted inactivation tm hair cell development; homozygous lethal Lanford et al. (1999) Nat Genet 21:289; Zine et al. (2000) Development 127:3373.
Kcne1 potassium
voltage-gated
channel,
Isk-related subfamily, member 1
16 64 pkr KO punk rocker, targeted inactivation sp, tm endolymph homeostasis; K+ transport Vetter et al. (1996) Neuron 17:1251; Letts et al. (2000) Mamm Genome 11:831.
Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 1 93.5 KO  targeted inactivation tm endolymph homeostasis; strial specific K+ transport Marcus et al. (2002) Am J Physiol Cell Physiol 282:C403.
Kcnma1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 14 6 KO  targeted inactivation tm Outer hair cell dysfunction; loss of KCNQ4 Ruttiger et al. (2004) Proc Natl Acad Sci 101:12922.
Kcnq1 potassium voltage-gated channel, subfamily Q, member 1 7 69 KO vtg  targeted inactivation vertigo tm, sp, ch endolymph homeostasis; K+ transport Lee et al. (2000) J Clin Invest 106:1447; Casimiro et al. (2001) Proc Natl Acad Sci 98:2526.
Kcnq4 potassium voltage-gated channel, subfamily Q, member 4 4 57 KO targeted inactivation tm endolymph homeostasis; K+ transport Kharkovets et al. (2006) Embo J 25:642.
Kif3a kinesin family member 3A 11 32 KO conditional inactivation tm planar polarization of hair cells Sipe and Lu (2011) Development 138:3441.
Kit kit oncogene 5 42 W dominant spotting sp, ra melanocyte development Deol (1970) J Embryol Exp Morphol 23:773; Steel et al. (1987) Hear Res 27:11; Geissler et al. (1988) Cell 55:185.
Kitl kit ligand 10 57 Sl steel sp, ra, ch melanocyte development Deol (1970) Proc R Soc Lond B Biol Sci 175:201; Copeland et al. (1990) Cell 63:175; Schrott et al. (1990) Hear Res 46:1.
Lama2 laminin, alpha 2 10 20 dy dystrophia muscularis sp, tm extracellular matrix Pillers de et al. (2002) Mol Genet Metab 76:217.
Large like-glycosyltransferase 8 33 myd myodystrophy sp unknown Mathews et al. (1995) J Neuropathol Exp Neurol 54:601; Grewal et al. (2001) Nat Genet 28:151.
Lepre1 leprecan1 (P3H1) 4 55 KO targeted inactivation tm middle ear bone joints Pokidysheva et al. (2013) Matrix Biol 32:39.
Lfng lunatic fringe gene homolog (Drosophila) 5 82 KO  targeted inactivation tm hair cell development Zhang et al. (1998) Nature 394:374; Zhang et al. (2000) Curr Biol 10:659.
Lmo4 LIM domain only 4 3 73 KO targeted inactivation tm vestibular morphogenesis Deng et al. (2010) Dev Biol 338:38.
Lmx1a LIM homeobox transcription factor 1 alpha 1 88 dr dreher sp inner ear development Lyon (1961) Genet Res 2:92; Deol (1964) J Embryol Exp Morphol 12:727; Millonig et al. (2000) Nature 403:764.
Loxhd1 lipoxygenase homology domains 1 18 50 samba ENU-induced mutation ch hair cell dysfunction and degeneration Grillet et al. (2009) Am J Hum Genet 85:328.
Lrig3 leucine-rich repeats and immunoglobulin-like domains 3 10 68 KO targeted inactivation tm lateral semicircular canal development Abraira et al. (2008) Development 135:4091.

Lrig1

Lrig2

leucine-rich repeats and immunoglobulin-like domains 1 and 2

6

3

43

46

K0

KO

targeted inactivation

targeted inactivation

tm

tm

inner ear morphogenesis and function Del Rio et al. (2013) PLoS Genet 9(9):E1003824.
Lrp2 low density
lipoprotein
receptor-related
protein 2 (megalin)
2 40 KO targeted inactivation tm abnormal stria vascularis Konig et al. (2008) FASEB J 22:410.
Mafb v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B (avian) 2 91 kr kreisler ra, ch inner ear development Deol (1964) J Embryol Exp Morphol 12:475; Cordes et al. (1994) Cell 79:1025.

Marveld2(TRIC)

MARVEL domain containing 2 (tricellulin) 13 53 KI targeted p.497X tm hair cell degeneration due to epithelial barrier leakage  Nayak et al. (2013) J Clin Invest 123:4036.
Mbp myelin basic protein 18 55 shi shiverer sp myelin deficiency Fujiyoshi et al. (1994) Ann Otol Rhinol Laryngol 103:449.
Mcoln3 mucolipin 3 3 75 Va varitint-waddler, gain of function sp hair cell degeneration due to constitutively open TRPML3 channel Deol (1954) J Genet 52:562:  Di Palma et al. (2002) Proc Natl Acad Sci 99:14994.
Myh9 myosin, heavy polypeptide 9, non-muscle 15 43 KI targeted R702C missense heterozygote tm unknown Suzuki et al. (2013) PLoS One 8(8):e71187
Mif macrophage migration inhibitory factor 10 39 KO targeted inactivation tm altered innervation of cochlea Bank et al. (2012) Development 139:4666.
Mirn96 microRNA 96 6 7 Dmdo diminuendo ch dysregulation of target genes Lewis et al. (2009) Nat Genet 41:614.
Mitf microphthalmia-associated transcription factor 6 40 mi microphthalmia sp, tg, ra, ch melanocyte development Deol (1970) Proc R Soc Lond B Biol Sci 175:201; Hodgkinson et al. (1993) Cell 74:395; Tassabehji et al. (1994) Nat Genet 8:251.

Mkks (Bbs6)

McKusick-Kaufman syndrome protein

2 76 KO targeted inactivation tm

kinocilia-related planar cell polarity

Ross et al. (2005) Nat Genet 37:1135.
Mos Moloney sarcoma oncogene transgene 4 0   overexpression of Mos tg organ of Corti degeneration Propst et al. (1990) Proc Natl Acad Sci 87:9703; Rauch (1992) Ann Otol Rhinol Laryngol 101:430.
Mpv17 MpV17 mitochondrial inner membrane protein 5 18   insertional inactivation of Mpv17 tg inner ear degeneration Meyer zum Gottesberge et al. (2012) Cell Tissue Res 347:343; Muller et al. (1997) Hear Res 114:259.
Msrb3 methionine sulfoxide reductase B3 10 69 KO targeted inactivation tm hair cell degeneration Kwon et al. (2014) Hum Mol Genet 23:1591.
Mtap1a microtubule-associated protein 1 A 2 68 moth1 modifier of tubby hearing 1 isp hair cell degeneration Ikeda et al. (1999) Hum Mol Genet 8:1761; Ikeda et al. (2002) Nat Genet 30:401.
Muted muted 13 21 mu muted sp otolith defect Lyon et al. (1969) Genet Res 14:163; Swank et al. (1991) Blood 78:2036; Zhang et al. (2002) Hum Mol Genet 11:697.
Mycn

v-myc myelocytomatosis viral related oncogene, neuroblastoma derived

12 6 KO conditional, inner ear tm inner ear development Dominguez-Frutos et al. (2011) J Neurosci 31:7178; Kopecky et al. (2011) Dev Dyn 240:1373.
Myo15 myosin XV 11 34 sh2 shaker 2 sp, ra hair cell defects Deol (1954) J Genet 52:562; Probst et al. (1998) Science 280:1444; Wang et al. (1998) Science 280:1447.
Myo3a myosin IIIA 2 15 KI nonsense mutation tm outer hair cell degeneration Walsh et al. (2011) Mamm Genome 22:170.
Myo6  myosin VI 9 44

sv

Tlc

Snell’s waltzer

Tailchaiser

sp

ch

hair cell defects Deol et al. (1966) Genet Res 8:339; Avraham et al. (1995) Nat Genet 11:369; Hertzano et al. (2008) PLoS Genet 4:e1000207.
Myo7a myosin VIIa 7 48 sh1 shaker 1 sp, ch hair cell defects Deol (1956) Proc R Soc Lond B Biol Sci 145:206; Gibson et al. (1995) Nature 374:62.
Nav2 (Unc53H2) neuron navigator 2 7 24 KO gene trap gt axonal guidance deficit Peeters et al. (2004) Brain Res Dev Brain Res 150:89.
Ndph Norrie disease homolog X 5 KO  targeted inactivation tm stria vascularis Berger et al. (1996) Hum Mol Genet 5:51; Rehm et al. (2002) J Neurosci 22:4286.
Neu1 neuraminidase 1 17 19 KO targeted inactivation tm lysosome storage defect sialidosis Wu et al. (2010) Biochim Biophys Acta 1802:259
Neurod1 neurogenic differentiation 1 2 46 KO  targeted inactivation tm hair cell innervation; rescued neonatal lethality Kim et al. (2001) Development 128:417.
Neurog1 (Neurod3) neurogenin 1 13 35 KO  targeted inactivation tm hair cell innervation; neonatal lethality Ma et al. (2000) J. Assoc. Res. Otolaryngol. 1:129.
Nfkb1 nuclear factor of
Kappa light chain
gene enhancer in
B cells 1
(p50 subunit)
3 69 KO  targeted inactivation tm loss of spiral ganglion cells Lang et al. (2006) J Neurosci 26:3541.
Ngfr nerve growth factor receptor 11 56 KO hypomorph tm loss of spiral ganglion cells and hair cells Sato et al. (2006) Brain Res 1091:224.
Nog noggin 11 51 KO het heterozygote for targeted inactivation tm ectopic bone between stapes and tympanum Hwang and Wu (2008) Hum Mol Genet 17:844
Notch1 Notch gene homolog 1, (Drosophila) 2 15 KO  targeted inactivation tm hair cell development; homozygous lethal Zhang et al. (2000) Curr Biol 10:659; Zine et al. (2000) Development 127:3373.
Nox3 NADPH oxidase 3 17 4 het head tilt sp otolith defect Sweet (1980) Mouse News Lett 63:19; Paffenholz et al. (2004) Genes Dev 18:486.
Noxo1 NADPH oxidase organizer 1 17 10 hslt head slant sp otolith defect Kiss et al. (2006) Curr Biol 16:208.
Nr4a3 nuclear receptor subfamily 4, group A, member 3 ? ? KO  targeted inactivation tm semicircular canal defects Ponnio et al. (2002) Mol Cell Biol 22:935.
Ntf3 neurotrophin 3 6 61 KO  targeted inactivation tm hair cell innervation Farinas et al. (1994) Nature 369:658; Fritzsch et al. (1997) J Neurosci 17:6213.
Ntn1 netrin 1 U   KO  targeted inactivation tm semicircular canal formation; homozygous lethal Salminen et al. (2000) Development 127:13.
Ntrk2 neurotrophic t
yrosine kinase,
receptor,
type 2
13 36 KO targeted inactivation tm hair cell innervation, homozygous lethal Schimmang et al. (1995) Development 121:3381; Fritzsch et al. (1998) Int J Dev Neurosci 16:493.
Ntrk3 neurotrophic tyrosine kinase, receptor, type 3 7 39 KO targeted inactivation tm hair cell innervation Schimmang et al. (1995) Development 121:3381; Fritzsch et al. (1998) Int J Dev Neurosci 16:493.
Oc90 otoconin 90 15 38 KO targeted inactivation tm acellular membrane defect, giant otoconia Zhao et al. (2008) Neuroscience 153:289.
Otoa   otoancorin 7 65 KO targeted inactivation tm tectorial membrane detached from spiral limbus -failure to stimulate inner har cells Lukashkin et al. (2012) Proc natl Acad Sci USA 109:19351.
Otof otoferlin 5 18 KO targeted inactivation tm inner hair cell neurotransmitter release Roux et al. (2006) Cell 127: 277.
Otog otogelin 7 28 KO, twt twister sp, tm acellular membrane defect Simmler et al. (2000) Nat Genet 24:139; Simmler et al. (2000) Mamm Genome 11:960.
Otop1 otopetrin 1 5 24 tlt tilted sp otolith defect Ornitz et al. (1998) Hear Res 122:60; Hurle et al. (2003) Hum Mol Genet 12:777.
Otos otospiralin 1 58 KO  targeted inactivation tm inner ear fibrocytes Delprat et al. (2005) Mol Cell Biol 25:847.
Otx1 orthodenticle homolog 1 11 12 KO, jv targeted inactivation, Jackson waltzer tm, sp inner ear development Morsli et al. (1999) Development 126:2335.
Oxgr1 oxoglutarate receptor 1 14 64 KO targeted inactivation tm otitis media predisposition Kerschner et al. (2013) Int J Pediatr Otorhinolaryngol 77:79.
P2rx2 purinergic receptor P2X, ligand-gated ion channel 2 5 53.5 KO targeted inactivation tm ATP-activated membrane permealbility Yan et al. (2013) Proc Natl Acad Sci 110:2228.
Pax2 paired box gene 2 19 43 KO  targeted inactivation tm inner ear development; homozygous lethal Favor et al. (1996) Proc. Natl. Acad. Sci. USA 93:13870; Torres et al. (1996) Development 122:3381.
Pax2 is included 19 43 Krd kidney and retinal defects tg homozygous lethal Keller et al. (1994) Genomics 23:309.
Pax3 paired box gene 3 1 44 Sp splotch sp, ra melanocyte development Epstein et al. (1991) Cell 67:767; Steel et al. (1992) Nat Genet 2:75.
Pax8 paired box gene 8 2 13.5 KO  targeted inactivation tm congenital hypothyroidism Christ et al. (2004) Audiol Neurootol 9:88.
Pcdh15 protocadherin 15 10 40 av Ames waltzer sp, tg hair cell defects Zobeley et al. (1998) Genomics 50:260; Alagramam et al. (2001) Nat Genet 27:99.
Phex  phosphate regulating neutral endopeptidases on the X chromosome X 65

Hyp

Gy

hypophosphatemia

included in gyro deletion region 

sp, tm, ch, ra

secondary hair cell loss Lyon et al. (1986) Proc Natl Acad Sci  83:4899; Strom et al. (1997) Hum Mol Genet 6:165; Lorenz-Depiereux et al. (2004) Mamm Genome 15:151.
Pkd1 polycystic kidney disease 1 homolog 17 12 KO, KI conditional KO tm hair bundle disorganization Steigelman et al. (2011) J Neurosci 31:12241.
Pldn pallidin 2 68 pa pallid sp otolith defect Lyon (1953) J Genet 51:638; Erway et al. (1971) Genetics 67:97; Huang et al. (1999) Nat Genet 23:329.
Pmp22 peripheral myelin protein, 22 kDa 11 35 Tr trembler sp myelin deficiency Suter et al. (1992) Nature 356:241; Zhou et al. (1995) Hear Res 88:87.
Pnoc prepronociceptin 14 27 KO  targeted inactivation tm dysregulation of hearing recovery Nishi et al. (1997) Embo J 16:1858.
Pou1f1 POU domain, class 1, transcription factor 1 16 44 dw Snell dwarf sp thyroid hormone deficiency Karolyi et al. (2007) Mamm Genome 18:596.
Pou3f4 POU domain, class 3, transcription factor 4 X 48 KO slf targeted inactivation sex-linked fidget tm, ra inner ear development Minowa et al. (1999) Science 285:1408; Phippard et al. (1999) J Neurosci 19:5980; Phippard et al. (2000) Hum Mol Genet 9:79.
Pou4f1 POU domain, class 4, transcription factor 1 14 51 KO  targeted inactivation tm sensory ganglia development Huang et al. (2001) Development 128:2421.
Pou4f3  POU domain, class 4, transcription factor 3 18 24 KO, ddl targeted inactivation dreidel  tm, sp hair cell development Erkman et al. (1996) Nature 381:603; Xiang et al. (1997) Proc Natl Acad Sci 94:9445; Vahava et al. (1998) Science 279:1950.
Prop1 paired like
homeodomain
factor 1
11 25 df Ames dwarf sp thyroid hormone deficiency Karolyi et al. (2007) Mamm Genome 18:596.
Psap prosaposin 10 35 KO targeted inactivation tm hypertrophy of auditory neurites Akil et al. (2006) J Neurosci 26:13076.
Pten phosphate and tensin homolog 19 28 KO heterozygote targeted inactivation tm regulation of hair cell proliferation and bundle development Dong et al. (2010) Neuroscience 170:1304.
Ptk7

PTK7 protein tyrosine kinase 7

17 24 KO targeted inactivation tm hair cell planar cell polarity Lu et al. (2004) Nature 430:93.
Ptprq protein tyrosine phosphatase, receptor type, Q 10 60    targeted inactivation tm absent hair bundle shaft connectors progressive hair cell degeneration Goodyear et al. (2003) J Neurosci 23:9208.

Pvrl1 (nectin 1)

poliovirus receptor-related 1 9 24 KO targeted inactivation tm disruption of checkerboard pattern of cochlear hair cells Togashi et al. (2011) Science 333:1144.
Pvrl3 (nectin 3) poliovirus receptor-related 3 16 30 KO targeted inactivation tm disruption of checkerboard pattern of cochelar hair cells Togashi et al. (2011) Science 333: 1144.
Qk quaking 17 6 qk quaking sp, ch myelin deficiency Sidman et al. (1964) Science 144:309; Shah et al. (1980) Neuroscience 5:2321.
Rbpj recombination signal binding protein for immunoglobulin kappa J region 5 29 KO conditional targeted inactivation tm absence of prosensory patches in developing inner ear Yamamoto et al. (2011) Dev Biol 353:367.
Rdx radixin 9 29 KO  targeted inactivation tm Cochlear hair cell stereocilia Kitajiri et al. (2004) J Cell Biol 166:559.
Ret ret proto-oncogene 6 53 KI targeted knock-in tm degeneration of spiral ganglion neurons Ohgami et al. (2010) PNAS 107:13051.
Rpl38 ribosomal protein L38 11 80 Ts tail short sp middle ear mineralization Noben-Trauth and Latoche (2011)  J Biol Chem 286:3079.
Sall1 sal-like 1 (Drosophila) 8 41 KO gain-of-function truncated protein tm model for human Townes-Brocks syndrome (TBS) Kiefer et al. (2003) Hum Mol Genet 12:2221.
Scarb2 (LIMP-2) scavenger receptor class B, member 2 5 45 KO  targeted inactivation tm stria vascularis defect Gamp et al. (2003) Hum Mol Genet 12:631; Knipper et al. (2006) J Physiol 576:73.
Scrib scribbled homolog 15 43.8 Crc circletail sp planar cell polarity,extension of cochlear duct Montcouquiol et al. (2003) Nature 423:173.
Serpinb6a serine peptidase inhibitor, clade B, member 6a 13 14 KO targeted inactivation tm progressive cellular degeneration within cochlea Tan et al. (2013) Am J Pathol 183:49
Sfswap splicing factor, suppressor of white-apricot 5 68  transgene insertional disruption tg defective hair cell patterning Moayedi et al. (2014) PLoS Genet 10(1):e1004055
Six1 sine oculis-related homeobox 1 homolog 12 31

KO

Cwe

 targeted inactivation

catweasel, hypomorphic missense

tm

ch

ear development; -/- perinatal lethal

Cwe/Cwe viable, truncated cochlea

Zheng et al. (2003) Development 130:3989; Bosman et al. (2009) Dev Biol 328:285.
Slc1a3 (GLAST) solute carrier family 1, member 3 (glial high affinity glutamate transporter) 15 7 KO targeted inactivation tm exacerbation of hearing loss Hakuba et al. (2000) J Neurosci 20:8750.
Slc4a7 solute carrier family 4, member 7  (sodium bicarbonate cotransporter) 14 0.5 KO targeted inactivation tm ion homeostasis, H+ disposal Bok et al. (2003) Nat Genet 34:313.
Slc4a11 solute carrier family 4, member 11  (sodium bicarbonate cotransporter) 2 74 KO targeted inactivation tm

abnormal fibrocyte NaBCl-mediated transport in the inner ear

Lopez et al. (2009) J Biol Chem 284:26882.
Slc12a2 solute carrier family 12, member 2 (sodium / potassium/ chloride transporter) 18 32 sy syns KO shaker with syndactylism shaker with no syndactylism targeted inactivation ra, sp, tm endolymph homeostasis; K+ transport Deol (1963) J Embryol Exp Morphol 11:493; Johnson et al. (1998) Mamm Genome 9:889; Dixon et al. (1999) Hum Mol Genet 8:159; Delpire et al. (1999) Nat Genet 22:192.
Slc12a6 solute carrier family 12, member 6   (potassium/ chloride co-transporter KCC3) 2 51 KO  targeted inactivation tm K+ transport Boettger et al. (2003) Embo J 22:5422.
Slc12a7 solute carrier family 12, member 7 (potassium/ choride co-transporter) 13 40 KO  targeted inactivation tm K+ transport Boettger et al. (2002) Nature 416:874.
Slc17a8 solute carrier family 17, 
member 8 (VGLUT3)
10 49 KO targeted inactivation tm absence of glutamate release from inner hair cells Seal et al. (2008) Neuron 57:263; Ruel et al. (2008) Am J Hum Genet 83:278.
Slc19a2 solute carrier family 19, member 2  (thiamine transproter) 1 87 KO  targeted inactivation tm Thiamin-responsive hearing loss Oishi et al. (2002) Hum Mol Genet 11:2951.
Slc26a4 (Pds) solute carrier family 26, member 4  (anion transporter; Pendred syndrome homolog) 12 15 KO  targeted inactivation tm endolymphatic dilatation; anion transport Everett et al. (2001) Hum Mol Genet 10:153.
Slc26a5 (Pres) solute carrier family 26, member 5 (sulfate transporter; prestin) 5 8 KO  targeted inactivation tm outer hair cell electromotility Liberman et al. (2002) Nature 419:300.
Slc30a4 solute carrier family 30, member 4 (zinc transporter) 2 69 lm lethal milk sp otolith defect Erway et al. (1984) J Hered 75:480; Huang et al. (1997) Nat Genet 17:292.

S1pr2  (Edg5)

sphingosine-1-phosphate receptor 2

9 6 KO targeted iinactivation tm organ of Corti degeneration; otoconia deficiency Maclennan et al. (2006) Hear Res 220:38; Herr et al. (2007) J Neurosci 27:1474; Kono et al. (2007) J Biol Chem 282:10690 
Sms spermine synthase X 65 Gy included in gyro deletion region ra loss of endocochlear potential Wang et al. (2008) J Biol Chem 284:930.
Snai2 snail homolog 2 (Drosophila) 16 9 KO  targeted inactivation tm melanocyte deficiency Sanchez-Martin et al. (2002) Hum Mol Genet 11:3231.

Sobp  (Jxc1)

sine oculis-binding protein homolog (Drosophila)

10 28 jc Jackson circler sp cochlear growth and patterning Chen et al. (2008) J Neurosci 28:6633.
Sod1 superoxide dismutase 1, soluble 16 61 KO  targeted inactivation tm susceptibility to hearing loss McFadden et al. (1999) Neurobiol Aging 20:1; Ohlemiller et al. (1999) Audiol Neurootol 4:237.
Sox9 SRY-box containing gene 9 11 70 KO conditional inactivation tm otic placode invagination Barrionuevo et al. (2008) Dev Biol 317:213.
Sox10 SRY-box containing gene 10 15 47 Dom dominant megacolon         sp melanocyte development Herbarth et al. (1998) Proc Natl Acad Sci 95:5161; Southard-Smith et al. (1998) Nat Genet 18:60.
Sox2 SRY-box
containing
gene 2
3 15 Lcc, Ysb light coat and circling, yellow submarine ra, tg inner ear development Dong et al. (2002) Genomics 79:777; Kiernan et al. (2005) Nature 434:1031.
Spnb4 beta-spectrin 4 7 15 qv quivering sp nervous system Bock et al. (1983) Acta Otolaryngol 96:371;  Parkinson et al. (2001) Nat Genet 29:61.
Spry2 sprouty homolog 2 (Drosophila) 14 51 KO targeted inactivation tm Deiters-pillar cell transformation Shim et al. (2005) Dev Cell 8:553.
Srrm4 serine/arginine repetitive matrix 4 5 57 bv Bronx waltzer sp alternative splicing defect of cochlear IHCs and vestibular HCs  Nakano et al. (2012) PLoS Genet 8(10): e1002966; Deol (1981) Acta Otolaryngol 92:331; Bussoli et al. (1997) Mamm Genome 8:714.
St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 6 31 KO targeted inactivation tm organ of Corti degeneration Yoshikawa et al. (2009) Proc Natl Acad Sci 106:9483.
Strc stereocilin 2 68 KO targeted inactivation tm loss of horizontal top connectors in OHC hair bundle Verpy et al. (2008) Nature 456:255.
Sun1 Sad1 and UNC84 domain containing 1 5 78 KO targeted inactivation tm OHC degeneration related to abnormal position of nucleus Horn et al. (2013) J Clin Invest 123:740.
Syne4 spectrin repeat containing, nuclear envelope family member 4 7 17 KO targeted inactivation tm OHC degeneration related to abnormal position of nucleus Horn et al. (2013) J Clin Invest 123:740.
Synj2 synaptojanin 2 17 4 ENU Mozart, missense ch hair cell degeneration Manji et al. (2011) PLoS One 6:e17607
Tbce tubulin-specific chaperone E 13 5 pmn progressive motor neuropathy sp microtubules of auditory nerve and OHCs Rak et al. (2013) Exp Neurol 250C:333
Tbx1 T-box 1 16 11 KO  targeted inactivation tm ear development Vitelli et al. (2003) Hum Mol Genet 12:2041.
Tbx10 T-box 10 19 2 Dc dancer sp ear development Deol (1966) Nature 209:219;  Bush et al. (2004) Proc Natl Acad Sci 101:7022.
Tbx15 T-box 15 3 49 de droopy ear sp malformed pinna Curry (1959) J Embryol Exp Morphol 7:39; Candille et al. (2004) PLoS Biol 2:E3.
Tbx18 T-box 18 9 49 KO + transgene targeted inactivation + transgenic rescue of perinatal lethality tm, tg defect in differentiation of otic fibrocytes Trowe et al. (2008) Development 135:1725.
Tcfap2a transcription factor AP-2, alpha 13 25 Dor doarad ch isolated middle ear defects in heterozygotes Ahituv et al. (2004) Mamm Genome 15:424.
Tcof1 Treacher Collins Franceschetti syndrome 1 18 32 KO targeted iinactivation tm middle ear cavitation defect in heterozygotes Richter et al. (2010) Hum Mol Genet 19:1551.
Tecta tectorin alpha 9 25 KO  targeted inactivation tm tectorial membrane Legan et al. (2000) Neuron 28:273; Legan et al. (2005) Nat Neurosci 8:1035.
Tgfa transforming grawth factor alpha 6 36 wa1 waved 1 sp external and middle ear Wright et al. (1996) Am J Otol 17:360.
Tgfb2 transforming growth factor beta 2 1 102 KO  targeted inactivation tm inner ear development; homozygous lethal Sanford et al. (1997) Development 124:2659; Paradies et al. (1998) Mech Dev 79:165.
Thrb thyroid hormone receptor beta 14 1.5 KO  targeted inactivation tm functional development of cochlea Forrest et al. (1996) Nat Genet 13:354; Rusch et al. (1998) Proc Natl Acad Sci 95:15758.
Tmc1 transmembrane cochlear-
expressed
gene 1
19 15 Bth, dn Beethoven, deafness ch, sp hair cell defects Deol et al. (1958) Heredity 12:463; Kurima et al. (2002) Nat Genet 30: 277; Vreugde et al. (2002) Nat Genet 30:257.
Tmhs tetraspan membrane protein, hair cell stereocilia 17 16 hscy hurry-scurry sp stereocilia morphogenesis Longo-Guess et al. (2005) Proc Natl Acad Sci 102:7894.
Tmie transmembrane inner ear 9 64 sr spinner sp hair cell defects Deol et al. (1962) J Hered 53:133; Mitchem et al. (2002) Hum Mol Genet 11:1887.
Tmprss3 transmembrane protease, serine 3 17 16 Y260X ENU-induced nonsense mutation  ch cochlear hair cell survival Fasquelle et al. (2011) J Biol Chem 286:17383
Tnf tumor necrosis factor 17 20 KO targeted inactivation tm outer hair cell dysfunction Oishi et al. (2013) J Assoc Res Otolaryngol 14:801
Tnfrsf11b (Opg) tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) 15 22 KO targeted inactivation tm abnormal otic capsule remodeling Kanzaki et al. (2006) Bone 39:414;  Zehnder et al. (2006) Laryngoscope 116:201.
Tomt transmembrane O-methyltransferase 7 50 add ENU-induced missense ch hair cell degeneration Du et al. (2008) Proc Natl Acad Sci 105:14609.
Tpo thyroid peroxidase 12 13

tee

tee-2J

teeny

teeny-2J

ch

sp

hypothyroid-related Johnson et al. (2014) J Assoc Res Otolaryngol 15:45.
Triobp TRIO and F-actin binding protein 15 47 KO-isoforms 4 & 5 deletion exon 8 tm lack stereocilia rootlets Kitajiri et al. (2010) Cell 141:786.
Trpv4 transient receptor potential cation channel, subfamily V, member 4 5 61 KO  targeted inactivation tm cation channel Tabuchi et al. (2005) Neurosci Lett 382:304.
Tshr thyroid stimulating hormone, receptor 12 37 hyt hypothyroid sp thyroid hormone O'Malley et al. (1995) Hear Res 88:181; Li et al. (1999) Hear Res 138:65.
Tub tubby 7 51 tub tubby sp hair cell degeneration Noben-Trauth et al. (1996) Nature 380:534; Ikeda et al. (1999) Hum Mol Genet 8:1761.
Ucn urocortin 5 18 KO  targeted inactivation tm hair cell function Vetter et al. (2002) Nat Genet 31:363.
Ush1c Usher syndrome 1C homolog (human) 7 23 dfcr, dfcr-2J

deaf circler, deaf circler-2J

sp hair cell degeneration Johnson et al. (2003) Hum Mol Genet 12:3075.
Ush1g (Sans)  Usher syndrome 1G homolog (human)  11 77   js Jackson shaker  sp  hair cell defects Kikkawa et al. (2003) Hum Mol Genet 12:453.
Ush2a Usher syndrome
2A homolog (human)
1 106 KO targeted inactivation tm outer hair cell loss in basal cochlea Liu et al. (2007) Proc Natl Acad Sci USA 104:4413
Vangl2 vang-like 2 (van gogh, Drosophila) 1 94 Lp loop-tail sp planar cell polarity, extension of cochlear duct Deol (1966) Nature 209:219; Wilson (1985) Arch Otorhinolaryngol 241:203; Montcouquiol et al. (2003) Nature 423:173.
Whrn whirlin 4 31 wi whirler sp hair cell defects Lane (1963) J Hered 54:163;  Mburu et al. (2003) Nat Genet 34:421.
Zeb1 zinc finger E-box binding homeobox 1 18 4 Tw twirler sp inner ear development Hertzano et al. (2011) PLoS Genet 7(9):e1002309; Kurima et al. (2011) PLoS Genet 7(9):e1002307.
   double gene knock-outs:            
Abr active BCR-related gene 11 45 2-KO targeted inactivations tm vestibular dysgenesis, saccule and utricle Kaartinen et al. (2002) Dev Dyn 223:517.
Bcr breakpoint cluster region homolog 10 40.5
Dvl1 disheveled, dsh homolog 1 4 82 2-KO targeted inactivations tm planar cell polarity, extensionn of cochlear duct Wang et al. (2005) Nat Genet 37:980; Etheridge et al. (2008) PLoS Genet 4:e1000259.
Dvl2 disheveled, dsh homolog 2 11 36.5
Dvl3 disheveled, dsh homolog 3 16 14
Fzd3 frizzled homolog 3 14 27 2-KO targeted inactivations tm planar cell polarity Wang et al. (2006) J Neurosci 26:2147.
Fzd6 frizzled homolog 6 15 13
Hoxa1,2 homeo box A1, A2 6 26 2-KO targeted inactivations tm ear development Gavalas et al. (1998) Development 125:1123.
Hoxb1 homeo box B1 11 56
Prrx1 paired related homeobox 1 1 85 2-KO targeted inactivations tm inner ear development ten Berge et al. (1998) Development 125:3831.
Prrx2 paired related homeobox 2 2 19
Rara retinoic acid receptor, alpha 11 58 2-KO targeted inactivations tm oocyst patterning Dupe et al. (1999) Development 126:5051; Romand et al. (2002) Mech Dev 119:213.
Rarb retinoic acid receptor, beta 14 2
Rarg retinoic acid receptor, gamma 15 57
  Locus mapped, but gene not identified        
 ckr   16  32 ckr chakragati tg unknown Ratty et al. (1990)  Mol Brain Res 8:355; Smiraglia et al. (1997) Genomics 45:572.
 co   11 46 co cocked sp otolith defect Peterson (1970) Can J Genet Cytol 12:391.
 hb   75 hb head bobber, transgene insertional mutation that deletes Gpr26, Cpxm2, and Chst15 tg poorly developed semicircular canals, endolympphatic duct, and stria vascularis Somma et al. (2012) JARO [Epub ahead of print]; Hughes et al. (1998) Hered Deaf News 15:35.
 nv   7 4 nv Nijmegen waltzer sp unknown Abeelen et al. (1967) Genet Res 10:117.
 Q   8 38 Q quinky sp unknown Schaible (1961) Mouse News Lett 24:38.
 thd   1 60 thd tilted head sp, ra otolith defect Kelly et al. (1958) Mouse News Lett 19:37; Erway et al. (1971) Genetics 67:97.
 Wo   1 20-25 Wo wocko tg inner ear development Crenshaw et al. (1991) J Neurosci 11:1524; Friedman et al. (2000) Laryngoscope 110:489.

a Mutation types: tm = targeted, sp = spontaneous, tg = transgene, gt = gene trap, ch = chemically-induced, ra = radiation-induced

b References: Limited to first reports or most important papers; maximum of three.