Reference : Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/10993/1572
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
English
Vreugde, Sarah [> >]
Erven, Alexandra [> >]
Kros, Corne J. [> >]
Marcotti, Walter [> >]
Fuchs, Helmut [> >]
Kurima, Kiyoto [> >]
Wilcox, Edward R. [> >]
Friedman, Thomas B. [> >]
Griffith, Andrew J. [> >]
Balling, Rudi mailto []
Hrabe De Angelis, Martin [> >]
Avraham, Karen B. [> >]
Steel, Karen P. [> >]
2002
Nature Genetics
30
3
257-8
Yes (verified by ORBilu)
1061-4036
1546-1718
United States
[en] Animals ; Deafness/genetics ; Disease Models, Animal ; Genes, Dominant ; Genes, Recessive ; Hair Cells, Auditory/metabolism ; Humans ; In Situ Hybridization ; Membrane Proteins/genetics ; Mice ; Mice, Mutant Strains ; Molecular Sequence Data ; Mutation, Missense ; Phenotype
[en] 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.
http://hdl.handle.net/10993/1572
10.1038/ng848

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