Article
Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells.
Development (Cambridge, England) - 1 Feb 1998
Self T, Mahony M, Fleming J, Walsh J, Brown S D, Steel K P
Abstract excerpt
The mouse shaker-1 locus, Myo7a, encodes myosin VIIA and mutations in the orthologous gene in humans cause Usher syndrome type 1B or non-syndromic deafness. Myo7a is expressed very early in sensory hair cell development in the inner ear. We describe the effects of three mutations on cochlear hair cell development and function. In the Myo7a816SB and Myo7a6J mutants, stereocilia grow and form rows of graded heights...
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