Journal Article

Mutation of the Na-K-Cl Co-Transporter Gene <i>Slc12a2</i> Results in Deafness in Mice

Michael J. Dixon, James Gazzard, Shazia S. Chaudhry, Natalie Sampson, Bradley A. Schulte and Karen P. Steel

in Human Molecular Genetics

Volume 8, issue 8, pages 1579-1584
Published in print August 1999 | ISSN: 0964-6906
Published online August 1999 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/8.8.1579
Mutation of the Na-K-Cl Co-Transporter Gene Slc12a2 Results in Deafness in Mice

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Hearing impairment is a common human condition, but we know little about the molecular basis of cochlear function. Shaker-with-syndactylism (sy)isaclassic deaf mouse mutant and we show here that a second allele, syns, is associated with abnormal production of endolymph, the fluid bathing sensory hair cells. Using a positional candidate approach, we demonstrate that mutations in the gene encoding the basolateral Na-K-Cl co-transporter Slc12a2(Nkcc1, mBSC2) cause the deafness observed in sy and syns mice. This finding provides the molecular basis of another link in the chain of K+ recycling in the cochlea, a process essential for normal cochlear function.

Journal Article.  3980 words.  Illustrated.

Subjects: Genetics and Genomics

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