Article
A mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart.
PloS one - 15 Mar 2011
Manji Shehnaaz S M, Williams Louise H, Miller Kerry A, Ooms Lisa M, Bahlo Melanie, Mitchell Christina A, Dahl Hans-Henrik M
Abstract excerpt
BACKGROUND: Hearing impairment is the most common sensory impairment in humans, affecting 1:1,000 births. We have identified an ENU generated mouse mutant, Mozart, with recessively inherited, non-syndromic progressive hearing loss caused by a mutation in the synaptojanin 2 (Synj2), a central regulatory enzyme in the phosphoinositide-signaling cascade. METHODOLOGY/PRINCIPAL FINDINGS: The hearing loss in Mozart is...
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