Beethoven, a mouse model for dominant, progressive hearing loss DFNA36

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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Nature genetics 2002-03, Vol.30 (3), p.257-258
Hauptverfasser: Steel, Karen P, Friedman, Thomas B, Avraham, Karen B, Vreugde, Sarah, Marcotti, Walter, Hrabé de Angelis, Martin, Kros, Corné J, Wilcox, Edward R, Fuchs, Helmut, Kurima, Kiyoto, Balling, Rudi, Griffith, Andrew J, Erven, Alexandra
Format: Artikel
Sprache:eng
Schlagworte:
Animals
Biological and medical sciences
Chromosomes
Classical genetics, quantitative genetics, hybrids
Complications and side effects
Deafness - genetics
Diagnosis
Disease Models, Animal
Ears & hearing
Fundamental and applied biological sciences. Psychology
Gene mutations
Genes, Dominant
Genes, Recessive
Genetics of eukaryotes. Biological and molecular evolution
Hair Cells, Auditory - metabolism
Health aspects
Hearing loss
Hearing protection
Humans
Hybridization
In Situ Hybridization
Laboratory animals
Membrane Proteins - genetics
Mice
Mice, Mutant Strains
Molecular Sequence Data
Mutation
Mutation, Missense
Phenotype
Risk factors
Vertebrata
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung: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.
ISSN:1061-4036
1546-1718
DOI:10.1038/ng848