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A point mutation in a plasma membrane Ca(2+)-ATPase gene causes deafness in Wriggle Mouse Sagami.

Abstract：

:The spontaneous mutant, Wriggle Mouse Sagami (wri), is thought to be a model of hereditary hearing losses in humans. Here we report that the plasma membrane Ca(2+)-ATPase type 2 (PMCA2) gene is mutated in the wri mouse. A G-to-A transition was detected in wri, changing Glu-to-Lys within a conserved transmembrane domain. Mutation of PMCA2 was previously reported in deafwaddler (dfw) mutants; however, the sites of the wri and dfw mutations differ. Immunohistochemical analysis demonstrated that PMCA2 labeling in stereocilia of the cochlea was absent in the wri mutant, suggesting that PMCA2 is crucially involved in the physiology of the auditory system.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Takahashi K,Kitamura K

doi

10.1006/bbrc.1999.1102

subject

Has Abstract

pub_date

1999-08-11 00:00:00

pages

773-8

issue

3

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(99)91102-6

journal_volume

261

pub_type

杂志文章

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