Preparing your results

Our searching services are busy right now. Your search will reload in five seconds.

X
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

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

Nature genetics | Mar 28, 2002

http://www.ncbi.nlm.nih.gov/pubmed/11850623

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.

Pubmed ID: 11850623 RIS Download

Mesh terms: Animals | Deafness | Disease Models, Animal | Genes, Dominant | Genes, Recessive | Hair Cells, Auditory | Humans | In Situ Hybridization | Membrane Proteins | Mice | Mice, Mutant Strains | Molecular Sequence Data | Mutation, Missense | Phenotype

Publication data is provided by the National Library of Medicine ® and PubMed ®. Data is retrieved from PubMed ® on a weekly schedule. For terms and conditions see the National Library of Medicine Terms and Conditions.