Article
Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia.
Hearing research - 1 Sept 2004
McCullough Brendan J, Tempel Bruce L
Abstract excerpt
The auditory and vestibular systems rely on the plasma membrane calcium ATPase, isoform 2 (PMCA2) to extrude calcium that enters the stereocilia during transduction. Mutations in the gene encoding this protein result in recessive sensorineural deafness and ataxia in the deafwaddler mouse. In this study, we report the identification of a new allele of deafwaddler, dfw(3j). This allele contains a 4-nucleotide...
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