| Literature DB >> 11850623 |
Sarah Vreugde1, Alexandra Erven, Corné J Kros, Walter Marcotti, Helmut Fuchs, Kiyoto Kurima, Edward R Wilcox, Thomas B Friedman, Andrew J Griffith, Rudi Balling, Martin Hrabé De Angelis, Karen B Avraham, Karen P Steel.
Abstract
Despite recent progress in identifying genes underlying deafness, there are still relatively few mouse models of specific forms of human deafness. Here we describe the phenotype of the Beethoven (Bth) mouse mutant and a missense mutation in Tmc1 (transmembrane cochlear-expressed gene 1). Progressive hearing loss (DFNA36) and profound congenital deafness (DFNB7/B11) are caused by dominant and recessive mutations of the human ortholog, TMC1 (ref. 1), for which Bth and deafness (dn) are mouse models, respectively.Entities:
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Year: 2002 PMID： 11850623 DOI： 10.1038/ng848
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330