Abstract

of Work: A research effort to identify mouse homologues of genes which cause hereditary hearing impairment is being initiated. Hearing deficient mutant mouse strains are excellent tools to identify genes that play crucial roles during development and functional organization of the mammalian inner ear. Of particular interest are the deaf waddler (dfw), Varitint-waddler (Va), ames waltzer (av), and jackson circler (jc) strains which selectively affect the sensory cells. Our goal is to positionally clone the deaf waddler gene, characterize the function of the gene product and to evaluate dfw as a candidate gene for DFNB6, which has been identified as a cause of nonsyndromic hereditary hearing impairment in several families .

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute on Deafness and Other Communication Disorders (NIDCD)
Type
Intramural Research (Z01)
Project #
1Z01DC000036-01
Application #
6161762
Study Section
Special Emphasis Panel (LMG)
Project Start
Project End
Budget Start
Budget End
Support Year
1
Fiscal Year
1997
Total Cost
Indirect Cost

  Institution

Name
National Institute on Deafness and Other Communication Disorders
Department
Type
DUNS #
City
State
Country
United States
Zip Code

  Publications

Rzadzinska, Agnieszka K; Derr, Adam; Kachar, Bechara et al. (2005) Sustained cadherin 23 expression in young and adult cochlea of normal and hearing-impaired mice. Hear Res 208:114-21
Johnson, K R; Zheng, Q Y; Weston, M D et al. (2005) The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC. Genomics 85:582-90
Pompeia, Celine; Hurle, Belen; Belyantseva, Inna A et al. (2004) Gene expression profile of the mouse organ of Corti at the onset of hearing. Genomics 83:1000-11
Noben-Trauth, Konrad; Zheng, Qing Yin; Johnson, Kenneth R (2003) Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss. Nat Genet 35:21-3
Bryda, E C; Kim, H J; Legare, M E et al. (2001) High-resolution genetic and physical mapping of modifier-of-deafwaddler (mdfw) and Waltzer (Cdh23v). Genomics 73:338-42
Di Palma, F; Holme, R H; Bryda, E C et al. (2001) Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Nat Genet 27:103-7
Di Palma, F; Pellegrino, R; Noben-Trauth, K (2001) Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23). Gene 281:31-41
Parkinson, N J; Olsson, C L; Hallows, J L et al. (2001) Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice. Nat Genet 29:61-5