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Phenotypes Associated with This Genotype
Genotype
MGI:3513541
Allelic
Composition
Slc12a3tm1Ges/Slc12a3tm1Ges
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc12a3tm1Ges mutation (1 available); any Slc12a3 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Mitochondrial abnormalities in renal distal convoluted tubule cells of Slc12a3tm1Ges/Slc12a3tm1Ges mice

renal/urinary system
• 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
• 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
• magnesium levels are significantly lower on either a normal or sodium-depleted diet
• 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
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/10/2019
MGI 6.14
The Jackson Laboratory