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Symbol
Name
ID
Slc12a1
solute carrier family 12, member 1
MGI:103150
Phenotype annotations related to homeostasis/metabolism
Darker colors indicate more annotations
Human Phenotypes
Chondrocalcinosis
Hypercalcemia
Hypomagnesemia
Hypokalemia
Hypochloremia
Increased serum prostaglandin E2
Hypokalemic metabolic alkalosis
Dehydration
Fever
Hyperchloriduria
Increased urinary potassium
Renal potassium wasting
Hypercalciuria
Renal salt wasting
Hyperprostaglandinuria
Hyposthenuria
Disease(s) Associated with SLC12A1
Bartter disease type 1

Mouse Phenotypes
decreased circulating creatinine level
increased circulating creatinine level
decreased urine creatinine level
increased urine creatinine level
abnormal blood homeostasis
increased blood urea nitrogen level
decreased circulating glucose level
increased circulating atrial natriuretic factor
increased circulating calcium level
abnormal circulating magnesium level
increased circulating magnesium level
increased circulating sodium level
increased circulating alkaline phosphatase level
decreased circulating renin level
increased circulating renin level
increased circulating total protein level
abnormal fluid regulation
abnormal renal water reabsorbtion
decreased circulating chloride level
increased circulating chloride level
increased urine potassium level
decreased urine sodium level
increased urine sodium level
abnormal mineral level
metabolic acidosis
alkalosis
abnormal urine homeostasis
increased urine calcium level
increased urine magnesium level
decreased urine osmolality
increased urine osmolality
increased urine prostaglandin level
abnormal urine urea nitrogen level
decreased urine uric acid level
increased renin activity
Availability Mouse Genotype
Slc12a1tm1Haca/Slc12a1tm1Haca
Slc12a1tm1Tkh/Slc12a1tm1Tkh
Slc12a1tm2Haca/Slc12a1tm2Haca
Slc12a1urehr3/Slc12a1urehr3

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/14/2019
MGI 6.14
The Jackson Laboratory