The investigators, while producing chemically induced mutations mice, have found a new mutation in a gene called waltzer (v) that is involved deafness. This application proposes to map and isolate the v gene using molecular techniques. A high-resolution map of the chromosomal region around this gene on mouse chromosome 10 has been constructed and the critical region identified. Several BACs in the v critical region have also been isolated. The goals of this project are to physically map, identify and characterize the v gene. Once the gene is identified, the human homologue will be isolated. The long term goal of this proposal is to use an autosomal recessive mouse model for deafness to understand the etiology of hearing defects in mammals.
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 |
Burmeister, M; Bryda, E C; Bureau, J F et al. (1999) Mouse chromosome 10. Mamm Genome 10:950-1 |