Human molecular genetics, 1999-08, Vol.8 (8), p.1579-1584
1999
Volltextzugriff (PDF)
Details
- Autor(en) / Beteiligte
- Titel
- Mutation of the Na-K-Cl Co-Transporter Gene Slc12a2 Results in Deafness in Mice
- Ist Teil von
- Human molecular genetics, 1999-08, Vol.8 (8), p.1579-1584
- Ort / Verlag
- Oxford: Oxford University Press
- Erscheinungsjahr
- 1999
- Quelle
- Oxford Journals 2020 Medicine
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0964-6906eISSN: 1460-2083DOI: 10.1093/hmg/8.8.1579Titel-ID: cdi_proquest_miscellaneous_69887519
- Format
- –
- Schlagworte
- Animals, Biological and medical sciences, Carrier Proteins - analysis, Carrier Proteins - genetics, Chromosome Mapping, Cochlea - chemistry, Cochlea - pathology, Deafness - genetics, Deafness - metabolism, Deafness - pathology, DNA - chemistry, DNA - genetics, DNA Mutational Analysis, Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology, Female, Genes - genetics, Immunohistochemistry, Limb Deformities, Congenital - genetics, Male, Medical sciences, Mice, Mice, Inbred C3H, Mice, Inbred C57BL, Mice, Inbred CBA, Mice, Inbred DBA, Mice, Inbred Strains, Mice, Mutant Strains, Mutation, Non tumoral diseases, Otorhinolaryngology. Stomatology, Sodium-Potassium-Chloride Symporters, Syndactyly - genetics