Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Animals
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Carrier Proteins / analysis
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Carrier Proteins / genetics*
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Chromosome Mapping
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Cochlea / chemistry
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Cochlea / pathology
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DNA / chemistry
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DNA / genetics
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DNA Mutational Analysis
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Deafness / genetics*
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Deafness / metabolism
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Deafness / pathology
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Female
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Genes / genetics
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Immunohistochemistry
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Limb Deformities, Congenital / genetics
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Male
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Mice
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Mice, Inbred C3H
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Mice, Inbred C57BL
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Mice, Inbred CBA
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Mice, Inbred DBA
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Mice, Inbred Strains
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Mice, Mutant Strains
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Mutation
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Sodium-Potassium-Chloride Symporters
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Syndactyly / genetics
Substances
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Carrier Proteins
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Sodium-Potassium-Chloride Symporters
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DNA