Nature Genetics
30, 257 - 258 (2002)
Published online: 19 February 2002; | doi:10.1038/ng848
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36Sarah Vreugde1, 6, Alexandra Erven2, 6, Corné J. Kros3, Walter Marcotti3, Helmut Fuchs4, Kiyoto Kurima5, Edward R. Wilcox5, Thomas B. Friedman5, Andrew J. Griffith5, Rudi Balling4, Martin Hrabé de Angelis4, Karen B. Avraham1
& Karen P. Steel21
Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel. 2
MRC Institute of Hearing Research, University Park, Nottingham, NG7 2RD, UK. 3
School of Biological Sciences, University of Sussex, Falmer, Brighton BN1 9QG, UK. 4
GSF Research Center for Environment and Health, Institute of Experimental Genetics, Neuherberg 85764, Germany. 5
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA. 6
These authors contributed equally to this work.
Correspondence should be addressed to Karen B. Avraham karena@post.tau.ac.ilDespite 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.
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