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A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA
 

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
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,

  

Source: Avraham, Karen - Department of Human Genetics and Molecular Medicine, Tel Aviv University

 

Collections: Biology and Medicine