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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice.

Hearing impairment is a common human condition, but we know little about the molecular basis of cochlear function. Shaker-with-syndactylism (sy) is a classic 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 provides the molecular basis of another link in the chain of K+recycling in the cochlea, a process essential for normal cochlear function.[1]


  1. Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice. Dixon, M.J., Gazzard, J., Chaudhry, S.S., Sampson, N., Schulte, B.A., Steel, K.P. Hum. Mol. Genet. (1999) [Pubmed]
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