Article
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
Nature genetics - 1 Mar 2002
Vreugde Sarah, Erven Alexandra, Kros Corné J, Marcotti Walter, Fuchs Helmut, Kurima Kiyoto, Wilcox Edward R, Friedman Thomas B, Griffith Andrew J, Balling Rudi, Hrabé De Angelis Martin, Avraham Karen B, Steel Karen P
Abstract excerpt
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...
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