Beethoven, a mouse model for dominant, progressive hearing loss DFNA36
S Vreugde, A Erven, CJ Kros, W Marcotti, H Fuchs… - Nature …, 2002 - nature.com
Nature genetics, 2002•nature.com
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.
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.
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) 1 are mouse models, respectively.
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