Mutation of the Na-K-Cl Co-Transporter Gene Slc12a2 Results in Deafness in Mice
MJ Dixon, J Gazzard, SS Chaudhry… - Human molecular …, 1999 - academic.oup.com
MJ Dixon, J Gazzard, SS Chaudhry, N Sampson, BA Schulte, KP Steel
Human molecular genetics, 1999•academic.oup.comHearing 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, sy ns, 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 sy ns mice. This finding …
basis of cochlear function. Shaker-with-syndactylism (sy) isaclassic deaf mouse mutant and
we show here that a second allele, sy ns, 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 sy ns mice. This finding …
Abstract
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.
Oxford University Press