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Gene Symbol |
Slc12a2 |
Gene Name |
Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1 (Nkcc1) |
Chromosome |
18 |
Celera ID Ensembl ID |
mCG21827 ENSMUSG00000024597 |
ES Cell Line |
E14TG2a |
Probe Primers |
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| Phenotype
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Affected mutant mice are homozygous for a deletion in the Nkcc1 gene, either in the transmembrane domain region, or in the C-terminus of the protein. Nkcc1-deficient mice are deaf, and have a vestibular defect which is characterized by circling and head tossing. Nkcc1-deficient males are infertile due to a defect in spermatogenesis. |
| Related
Publications |
Pace AJ, Lee E, Athirakul K, Coffman TM, O'Brien DA, Koller BH. Failure of spermatogenesis in mouse lines deficient in the Na(+)-K(+)-2Cl(-) cotransporter. J Clin Invest 2000 Feb; 105(4):441-50. Grubb BR, Lee E, Pace AJ, Koller BH, Boucher RC. Intestinal ion transport in NKCC1-deficient mice. Am J Physiol Gastrointest Liver Physiol 2000 Oct; 279(4):G707-18. Pace AJ, Madden VJ, Henson OW Jr, Koller BH, Henson MM. Ultrastructure of the inner ear of NKCC1-deficient mice. Hear Res 2001 Jun; 156(1-2):17-30. Grubb BR, Pace AJ, Lee E, Koller BH, Boucher RC. Alterations in
airway ion transport in NKCC1-deficient mice. Am J Physiol Cell
Physiol 2001 Aug; 281(2):C615-23. |
