|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 12, member 1|
|Synonyms||urehr3, mBSC1, Nkcc2, D630042G03Rik|
|Is this an essential gene?||Possibly non essential (E-score: 0.284)|
|Stock #||RF032 (G1)|
|Chromosomal Location||125152505-125230002 bp(+) (GRCm38)|
|Type of Mutation||small insertion (5 aa in frame mutation)|
|DNA Base Change (assembly)||ACAAACC to ACAAACCTTTGGCCACCAAACC at 125154210 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000106121 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028630] [ENSMUST00000110494] [ENSMUST00000110495]|
|AlphaFold||no structure available at present|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene do not survive to weaning and suffer from various metabolic abnormalities related to kidney function. Mice homozygous for an ENU-induced allele exhibit kidney disease, impaired urinary excretion of metabolism products, polyuria, and kidney alterations. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc12a1||
(F):5'- GGTCCATGTTATAAACGAGGGC -3'
(R):5'- TGCCCACCACTTATGATGCAG -3'
(F):5'- TCCATGTTATAAACGAGGGCCATGG -3'
(R):5'- ACCACTTATGATGCAGTGTTTTC -3'