title: Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
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) are mouse models, respectively.
authors.affiliation: Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.
authors.forename: Sarah
authors.initials: S
authors.lastname: Vreugde
authors.forename: Alexandra
authors.initials: A
authors.lastname: Erven
authors.forename: Corné J
authors.initials: CJ
authors.lastname: Kros
authors.forename: Walter
authors.initials: W
authors.lastname: Marcotti
authors.forename: Helmut
authors.initials: H
authors.lastname: Fuchs
authors.forename: Kiyoto
authors.initials: K
authors.lastname: Kurima
authors.forename: Edward R
authors.initials: ER
authors.lastname: Wilcox
authors.forename: Thomas B
authors.initials: TB
authors.lastname: Friedman
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Griffith
authors.forename: Rudi
authors.initials: R
authors.lastname: Balling
authors.forename: Martin
authors.initials: M
authors.lastname: Hrabé De Angelis
authors.forename: Karen B
authors.initials: KB
authors.lastname: Avraham
authors.forename: Karen P
authors.initials: KP
authors.lastname: Steel
mesh_terms: 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
chemical_list: D008565:Membrane Proteins; C451751:TMC1 protein, human