Beethoven, a mouse model for dominant, progressive hearing loss DFNA36

Sarah Vreugde, Alexandra Erven, Corné J. Kros, Walter Marcotti, Helmut Fuchs, Kiyoto Kurima, Edward R. Wilcox, Thomas B. Friedman, Andrew J. Griffith, Rudi Bailing, Martin Hrabé de Angelis, Karen B. Avraham, Karen P. Steel

Research output: Contribution to journalArticlepeer-review

218 Scopus citations


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)1 are mouse models, respectively.

Original languageEnglish
Pages (from-to)257-258
Number of pages2
JournalNature Genetics
Issue number3
StatePublished - Mar 2002
Externally publishedYes


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