Phenotypes Associated with This Genotype

Genotype
MGI:3513541

• Allelic Composition: Slc12a3^tm1Ges/Slc12a3^tm1Ges
• Genetic Background: Not Specified

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Mitochondrial abnormalities in renal distal convoluted tubule cells of Slc12a3^tm1Ges/Slc12a3^tm1Ges mice

renal/urinary system

decreased urine calcium level ( J:50596 )

• urinary calcium is lower in mutants on a normal diet compared to wild-type mice but does not decrease when mutants are fed a sodium-depleted diet unlike for wild-type mice

abnormal distal convoluted tubule morphology ( J:50596 )

• the number of readily identifiable distal convoluted tubule cells is decreased, cell height of the remaining distal convoluted tubule cells is decreased, and mitochondria within these cells are abnormally shaped

homeostasis/metabolism

decreased circulating magnesium level ( J:50596 )

• magnesium levels are significantly lower on either a normal or sodium-depleted diet

decreased urine calcium level ( J:50596 )

• urinary calcium is lower in mutants on a normal diet compared to wild-type mice but does not decrease when mutants are fed a sodium-depleted diet unlike for wild-type mice

cardiovascular system

decreased systemic arterial blood pressure ( J:50596 )

• mean arterial pressure is decreased in mutants on a sodium-depleted diet compared to wild-type mice but not in mutants on a normal diet

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Gitelman syndrome		DOID:0050450	OMIM:263800	J:50596