Hereditary Hearing Impairment in Mice
The Hereditary Hearing Impairment in Mice (HHIM) website serves to present updated results from a large scale screening program at The Jackson Laboratory to identify and characterize inbred and mutant strains of mice with associated hearing impairment (Screening). It also presents updated, comprehensive information on mouse models of human hearing disorders (Mouse models), mouse genes and mutations affecting hearing and balance (Genes and loci), map positions of these loci on individual chromosomes (Genetic map positions), and links to other Internet resources of particular interest to scientists using mice in hearing research (HHIM related links). The primary focus is on the mouse as a model for human inherited hearing disorders. Listed below are some recent publications related to this topic.
New gene identifications and mouse models:
Togashi H, Kominami K, Waseda M, Komura H, Miyoshi J, Takeichi M, Takai Y (2011) Nectins establish a checkerboard-like cellular pattern in the auditory epithelium. Science 333:1144-1147.
Hertzano R, Elkon R, Kurima K, Morrisson A, Chan SL, Sallin M, Biedlingmaier A, Darling DS, Griffith AJ, Eisenman DJ, Strome SE (2011) Cell Type-Specific Transcriptome Analysis Reveals a Major Role for Zeb1 and miR-200b in Mouse Inner Ear Morphogenesis. PLoS Genet 7:e1002309.
Kurima K, Hertzano R, Gavrilova O, Monahan K, Shpargel KB, Nadaraja G, Kawashima Y, Lee KY, Ito T, Higashi Y, Eisenman DJ, Strome SE, Griffith AJ (2011) A noncoding point mutation of zeb1 causes multiple developmental malformations and obesity in twirler mice. PLoS Genet 7:e1002307.
Charizopoulou N, Lelli A, Schraders M, Ray K, Hildebrand MS, Ramesh A, Srisailapathy CR, Oostrik J, Admiraal RJ, Neely HR, Latoche JR, Smith RJ, Northup JK, Kremer H, Holt JR, Noben-Trauth K (2011) Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. Nat Commun 2:201.
Manor U, Disanza A, Grati M, Andrade L, Lin H, Di Fiore PP, Scita G, Kachar B (2011) Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8. Curr Biol 21:167-172.
Shin JB, Longo-Guess CM, Gagnon LH, Saylor KW, Dumont RA, Spinelli KJ, Pagana JM, Wilmarth PA, David LL, Gillespie PG, Johnson KR (2010) The R109H Variant of Fascin-2, a Developmentally Regulated Actin Crosslinker in Hair-Cell Stereocilia, Underlies Early-Onset Hearing Loss of DBA/2J Mice. J Neurosci 30:9683-9694.
Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A, Loulus S, Avraham KB, King MC, Kanaan M (2010) Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet 87:90-94.
Kitajiri S, Sakamoto T, Belyantseva IA, Goodyear RJ, Stepanyan R, Fujiwara I, Bird JE, Riazuddin S, Ahmed ZM, Hinshaw JE, Sellers J, Bartles JR, Hammer JA, 3rd, Richardson GP, Griffith AJ, Frolenkov GI, Friedman TB (2010) Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. Cell 141:786-798.
Schraders M, Oostrik J, Huygen PL, Strom TM, van Wijk E, Kunst HP, Hoefsloot LH, Cremers CW, Admiraal RJ, Kremer H (2010) Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. Am J Hum Genet 86:604-610.
Li Y, Pohl E, Boulouiz R, Schraders M, Nurnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nurnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B (2010) Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss. Am J Hum Genet 86:479-484.
Rehman AU, Morell RJ, Belyantseva IA, Khan SY, Boger ET, Shahzad M, Ahmed ZM, Riazuddin S, Khan SN, Friedman TB (2010) Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79. Am J Hum Genet 86:378-388.
Odeh H, Hunker KL, Belyantseva IA, Azaiez H, Avenarius MR, Zheng L, Peters LM, Gagnon LH, Hagiwara N, Skynner MJ, Brilliant MH, Allen ND, Riazuddin S, Johnson KR, Raphael Y, Najmabadi H, Friedman TB, Bartles JR, Smith RJ, Kohrman DC (2010) Mutations in Grxcr1 Are The Basis for Inner Ear Dysfunction in the Pirouette Mouse. Am J Hum Genet 86:148-160.
Schraders M, Lee K, Oostrik J, Huygen PL, Ali G, Hoefsloot LH, Veltman JA, Cremers FP, Basit S, Ansar M, Cremers CW, Kunst HP, Ahmad W, Admiraal RJ, Leal SM, Kremer H (2010) Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment. Am J Hum Genet 86: 138-147.
Grillet, N, Schwander M, Hildebrand MS, Sczaniecka A, Kolatkar A, Velasco J, Webster JA, Kahrizi K, Najmabadi H, Kimberling WJ, Stephan D, Bahlo M, Wiltshire T, Tarantino LM, Kuhn P, Smith RJ, Muller U (2009) Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans. Am J Hum Genet 85: 328-37.
Schultz JM, Khan SN, Ahmed ZM, Riazuddin S, Waryah AM, Chhatre D, Starost MF, Ploplis B, Buckley S, Velasquez D, Kabra M, Lee K, Hassan MJ, Ali G, Ansar M, Ghosh M, Wilcox ER, Ahmad W, Merlino G, Leal SM, Friedman TB, Morell RJ (2009) Noncoding Mutations of HGF Are Associated with Nonsyndromic Hearing Loss, DFNB39. Am J Hum Genet 85:25-39.
Geng R, Geller SF, Hayashi T, Ray CA, Reh TA, Bermingham-McDonogh O, Jones SM, Wright CG, Melki S, Imanishi Y, Palczewski K, Alagramam KN, Flannery JG (2009) Usher Syndrome IIIA Gene Clarin-1 is Essential for Hair Cell Function and Associated Neural Activation. Hum Mol Genet 18: 2748-2760.
Lewis MA, Quint E, Glazier AM, Fuchs H, De Angelis MH, Langford C, van Dongen S, Abreu-Goodger C, Piipari M, Redshaw N, Dalmay T, Moreno-Pelayo MA, Enright AJ, Steel KP (2009) An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice. Nat Genet 41: 614-618.
Mencia A, Modamio-Hoybjor S, Redshaw N, Morin M, Mayo-Merino F, Olavarrieta L, Aguirre LA, Del Castillo I, Steel KP, Dalmay T, Moreno F, Moreno-Pelayo MA (2009) Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. Nat Genet 41: 609-613.
Du X, Schwander M, Moresco EM, Viviani P, Haller C, Hildebrand MS, Pak K, Tarantino L, Roberts A, Richardson H, Koob G, Najmabadi H, Ryan AF, Smith RJ, Muller U, Beutler B (2008) A catechol-O-methyltransferase that is essential for auditory function in mice and humans. Proc Natl Acad Sci U S A 105:14609-14614.
Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Friedman TB, Ayadi H, Kremer H (2008) Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet 40:1335-1340.
Verpy E, Weil D, Leibovici M, Goodyear RJ, Hamard G, Houdon C, Lefevre GM, Hardelin JP, Richardson GP, Avan P, Petit C (2008) Stereocilin-deficient mice reveal the origin of cochlear waveform distortions.
Nature 456:255-258.
Ruel J, Emery S, Nouvian R, Bersot T, Amilhon B, Van Rybroek JM, Rebillard G, Lenoir M, Eybalin M, Delprat B, Sivakumaran TA, Giros B, El Mestikawy S, Moser T, Smith RJ, Lesperance MM, Puel JL (2008) Impairment of SLC17A8 Encoding Vesicular Glutamate Transporter-3, VGLUT3, Underlies Nonsyndromic Deafness DFNA25 and Inner Hair Cell Dysfunction in Null Mice. Am J Hum Genet 83:278-292.
Chen Z, Montcouquiol M, Calderon R, Jenkins NA, Copeland NG, Kelley MW, Noben-Trauth K (2008) Jxc1/Sobp, encoding a nuclear zinc finger protein, is critical for cochlear growth, cell fate, and patterning of the organ of corti. J Neurosci 28:6633-6641.
Seal RP, Akil O, Yi E, Weber CM, Grant L, Yoo J, Clause A, Kandler K, Noebels JL, Glowatzki E, Lustig LR, Edwards RH (2008) Sensorineural deafness and seizures in mice lacking vesicular glutamate transporter 3. Neuron 57:263-275.
Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Leal SM, Kremer H (2008) Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35. Am J Hum Genet 82:125-138.
Chen J, Nathans J (2007) Estrogen-related receptor beta/NR3B2 controls epithelial cell fate and endolymph production by the stria vascularis. Dev Cell 13:325-337.
Liu X, Bulgakov OV, Darrow KN, Pawlyk B, Adamian M, Liberman MC, Li T (2007) Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc Natl Acad Sci U S A 104:4413-4418.
Nelson RF, Glenn KA, Zhang Y, Wen H, Knutson T, Gouvion CM, Robinson BK, Zhou Z, Yang B, Smith RJ, Paulson HL (2007) Selective cochlear degeneration in mice lacking the F-box protein, Fbx2, a glycoprotein-specific ubiquitin ligase subunit. J Neurosci 27:5163-5171.
Modamio-Hoybjor S, Mencia A, Goodyear R, Del Castillo I, Richardson G, Moreno F, Moreno-Pelayo MA (2007) A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor-Mediated Cell Signaling, Causes Progressive Hearing Loss. Am J Hum Genet 80:1076-1089.
Shin JB, Streijger F, Beynon A, Peters T, Gadzala L, McMillen D, Bystrom C, Van der Zee CE, Wallimann T, Gillespie PG (2007) Hair Bundles Are Specialized for ATP Delivery via Creatine Kinase. Neuron 53:371-386.
Khan SY, Ahmed ZM, Shabbir MI, Kitajiri SI, Kalsoom S, Tasneem S, Shayiq S, Ramesh A, Srisailpathy S, Khan SN, Smith RJ, Riazuddin S, Friedman TB (2007) Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. Hum Mutat 28:417-423.
Akil O, Chang J, Hiel H, Kong JH, Yi E, Glowatzki E, Lustig LR (2006) Progressive deafness and altered cochlear innervation in knock-out mice lacking prosaposin. J Neurosci 26:13076-13088.
Roux I, Safieddine S, Nouvian R, Grati M, Simmler MC, Bahloul A, Perfettini I, Le Gall M, Rostaing P, Hamard G, Triller A, Avan P, Moser T, Petit C (2006) Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell 127:277-289.
Hardisty-Hughes RE, Tateossian H, Morse SA, Romero MR, Middleton A, Tymowska-Lalanne Z, Hunter AJ, Cheeseman M, Brown SD (2006) A mutation in the f-box gene, fbxo11, causes otitis media in the jeff mouse. Hum Mol Genet 15:3273-3279.
Parkinson N, Hardisty-Hughes RE, Tateossian H, Tsai HT, Brooker D, Morse S, Lalane Z, Mackenzie F, Fray M, Glenister P, Woodward AM, Polley S, Barbaric I, Dear N, Hough TA, Hunter AJ, Cheeseman MT, Brown SD (2006) Mutation at the Evi1 Locus in Junbo Mice Causes Susceptibility to Otitis Media. PLoS Genet 2: e149.
Gagnon LH, Longo-Guess CM, Berryman M, Shin JB, Saylor KW, Yu H, Gillespie PG, Johnson KR (2006) The chloride intracellular channel protein CLIC5 is expressed at high levels in hair cell stereocilia and is essential for normal inner ear function. J Neurosci 26:10188-10198.
Delmaghani S, Del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M, Avan P, Petit C (2006) Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Nat Genet 38: 770-778.
Riazuddin S., Khan S. N., Ahmed Z. M., Ghosh M., Caution K., Nazli S., Kabra M., Zafar A. U., Chen K., Naz S., Antonellis A., Pavan W. J., Green E. D., Wilcox E. R., Friedman P. L., Morell R. J., and Friedman T. B. (2006). Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. Am J Hum Genet 78: 137-43.
Shahin H., Walsh T., Sobe T., Abu Sa'ed J., Abu Rayan A., Lynch E. D., Lee M. K., Avraham K. B., King M. C., and Kanaan M. (2006). Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. Am J Hum Genet 78: 144-52.
Shabbir, M.I., Ahmed, Z.M., Khan, S.Y., Riazuddin, S., Waryah, A.M., Khan, S.N., Camps, R.D., Ghosh, M., Kabra, M., Belyantseva, I.A. and Friedman, T.B. (2006). Mutations of human TMHS cause recessively inherited nonsyndromic hearing loss. J Med Genet 43: 634-40.
Kharkovets T., Dedek K., Maier H., Schweizer M., Khimich D., Nouvian R., Vardanyan V., Leuwer R., Moser T., and Jentsch T. J. (2006). Mice with altered KCNQ4 K(+) channels implicate sensory outer hair cells in human progressive deafness. Embo J 25:642-52.
The content of this site is maintained by Ken Johnson.
