Hereditary hearing impairment in mice
This web site serves to present updated results from a large scale screening program at The Jackson Laboratory to identify mouse strains and mutations with inherited hearing impairment (supported by NIDCD). It also presents updated information on mouse models of human hearing disorders, mouse genes and mutations affecting hearing and balance, map positions of these loci on individual chromosomes, and links to other Internet resources of particular interest to scientists using mice in hearing research. The primary focus is on the mouse as a model for human inherited hearing disorders.
New gene identifications and mouse models:
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.
