The mouse snell’s waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

Karen B. Avraham, Tama Hasson, Karen P. Steel, David M. Kingsley, Liane B. Russell, Mark S. Mooseker, Neal G. Copeland, Nancy A. Jenkins

Research output: Contribution to journalArticle

392 Scopus citations

Abstract

The mouse represents an excellent model system for the study of genetic deafness in humans. Many mouse deafness mutants have been identified and the anatomy of the mouse and human ear is similar. Here we report the use of a positional cloning approach to identify the gene encoded by the mouse recessive deafness mutation, Snell's waltzer (sv). We show that sv encodes an unconventional myosin heavy chain, myosin VI, which is expressed within the sensory hair cells of the inner ear, and appears to be required for maintaining their structural integrity. The requirement for myosin VI in hearing makes this gene an excellent candidate for a human deafness disorder.

Original languageEnglish (US)
Pages (from-to)369-375
Number of pages7
JournalNature Genetics
Volume11
Issue number4
DOIs
StatePublished - Dec 1995

ASJC Scopus subject areas

  • Genetics

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