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Summary: A mouse model for human hearing loss DFNB30 due to loss
of function of myosin IIIA
Vanessa L. Walsh · Dorith Raviv · Amiel A. Dror ·
Hashem Shahin · Tom Walsh · Moien N. Kanaan ·
Karen B. Avraham · Mary-Claire King
Received: 27 August 2010 / Accepted: 16 November 2010 / Published online: 17 December 2010
Ó Springer Science+Business Media, LLC 2010
Abstract The motor protein myosin IIIA is critical for
maintenance of normal hearing. Homozygosity and com-
pound heterozygosity for loss-of-function mutations in
MYO3A, which encodes myosin IIIA, are responsible for
inherited human progressive hearing loss DFNB30. To
further evaluate this hearing loss, we constructed a mouse
model, Myo3aKI/KI
, that harbors the mutation equivalent to
the nonsense allele responsible for the most severe human
phenotype. Myo3aKI/KI
mice were compared to their wild-
type littermates. Myosin IIIA, with a unique N-terminal
kinase domain and a C-terminal actin-binding domain,
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