| First Author | Dixon MJ | Year | 1999 |
| Journal | Hum Mol Genet | Volume | 8 |
| Issue | 8 | Pages | 1579-84 |
| PubMed ID | 10401008 | Mgi Jnum | J:56631 |
| Mgi Id | MGI:1342125 | Doi | 10.1093/hmg/8.8.1579 |
| Citation | Dixon MJ, et al. (1999) Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice. Hum Mol Genet 8(8):1579-84 |
| abstractText | 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-CI co- transporter Slc12a2(Nkcc1, mSSC2) 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. |
