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

Content Provider	Springer Nature Link
Author	Walsh, Vanessa L. Raviv, Dorith Dror, Amiel A. Shahin, Hashem Walsh, Tom Kanaan, Moien N. Avraham, Karen B. King, Mary Claire
Copyright Year	2010
Abstract	The motor protein myosin IIIA is critical for maintenance of normal hearing. Homozygosity and compound 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, Myo3a KI/KI, that harbors the mutation equivalent to the nonsense allele responsible for the most severe human phenotype. Myo3a KI/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, localizes to the tips of stereocilia in wild-type mice but is absent in the mutant. The phenotype of the Myo3a KI/KI mouse parallels the phenotype of human DFNB30. Hearing loss, as measured by auditory brainstem response, is reduced and progresses significantly with age. Vestibular function is normal. Outer hair cells of Myo3a KI/KI mice degenerate with age in a pattern consistent with their progressive hearing loss.
Starting Page	170
Ending Page	177
Page Count	8
File Format	PDF
ISSN	09388990
Journal	Mammalian Genome
Volume Number	22
Issue Number	3-4
e-ISSN	14321777
Language	English
Publisher	Springer-Verlag
Publisher Date	2010-12-17
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Zoology Cell Biology Anatomy
Content Type	Text
Resource Type	Article
Subject	Genetics

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4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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