Article
The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration.
Proceedings of the National Academy of Sciences of the United States of America - 8 Jan 2008
Nagata Keiichi, Zheng Lili, Madathany Thomas, Castiglioni Andrew J, Bartles James R, García-Añoveros Jaime
Abstract excerpt
Varitint-waddler (Va and Va(J)) mice are deaf and have vestibular impairment, with inner ear defects that include the degeneration and loss of sensory hair cells. The semidominant Va mutation results in an alanine-to-proline substitution at residue 419 (A419P) of the presumed ion channel TRPML3. Another allele, Va(J), has the A419P mutation in addition to an I362T mutation. We found that hair cells, marginal...
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