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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.
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  • Dixon MJ; School of Biological Sciences and Department of Dental Medicine and Surgery, 3.239 Stopford Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK.
Hum Mol Genet ; 8(8): 1579-84, 1999 Aug.
Article en En | MEDLINE | ID: mdl-10401008
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.
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Portadoras / Sordera Límite: Animals Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 1999 Tipo del documento: Article Pais de publicación: Reino Unido
Buscar en Google
Añadir a Mi BVS
Imprimir
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PubMed Links

Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Portadoras / Sordera Límite: Animals Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 1999 Tipo del documento: Article Pais de publicación: Reino Unido