Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
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.
Vreugde
Sarah
S
Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.
Erven
Alexandra
A
Kros
Corné J
CJ
Marcotti
Walter
W
Fuchs
Helmut
H
Kurima
Kiyoto
K
Wilcox
Edward R
ER
Friedman
Thomas B
TB
Griffith
Andrew J
AJ
Balling
Rudi
R
Hrabé De Angelis
Martin
M
Avraham
Karen B
KB
Steel
Karen P
KP
D000818:Animals; D003638:Deafness / Q000235:genetics*; D004195:Disease Models, Animal; D005799:Genes, Dominant; D005808:Genes, Recessive; D006198:Hair Cells, Auditory / Q000378:metabolism; D006801:Humans; D017403:In Situ Hybridization; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D008817:Mice, Mutant Strains; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010641:Phenotype
D008565:Membrane Proteins; C451751:TMC1 protein, human