Phenotypes associated with this allele

• Allele Symbol: Slc12a3^tm1Ges
• Allele Name: targeted mutation 1, Gary E Shull
• Allele ID: MGI:3513101
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc12a3^tm1Ges/Slc12a3^tm1Ges	involves: C57BL/6	MGI:4460806
hm2	Slc12a3^tm1Ges/Slc12a3^tm1Ges	Not Specified	MGI:3513541
cx3	Slc12a3^tm1Ges/Slc12a3^tm1Ges Tg(Wnk4*Q562E)#Rpl/Tg(Wnk4*Q562E)#Rpl	involves: C3H * C57BL/6	MGI:5525145

Genotype
MGI:4460806

hm1

• Allelic Composition: Slc12a3^tm1Ges/Slc12a3^tm1Ges
• Genetic Background: involves: C57BL/6

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

renal/urinary system

decreased urine chloride ion level ( J:161474 )

• in hydrochlorothiazide (HCTZ)-treated mice, chloride ion excretion is reduced and delayed compared to in similarly treated wild-type mice

decreased urine sodium level ( J:161474 )

• in hydrochlorothiazide (HCTZ)-treated mice, sodium ion excretion is reduced and delayed compared to in similarly treated wild-type mice

abnormal renal sodium ion transport ( J:161474 )

• when mice are fed a sodium-depleted diet, cortical collecting ducts absorb sodium unlike ducts from similarly treated wild-type mice

homeostasis/metabolism

decreased urine chloride ion level ( J:161474 )

• in hydrochlorothiazide (HCTZ)-treated mice, chloride ion excretion is reduced and delayed compared to in similarly treated wild-type mice

decreased urine sodium level ( J:161474 )

• in hydrochlorothiazide (HCTZ)-treated mice, sodium ion excretion is reduced and delayed compared to in similarly treated wild-type mice

abnormal physiological response to xenobiotic ( J:161474 )

• in hydrochlorothiazide (HCTZ)-treated mice, chloride and sodium ion excretion is reduced and delayed compared to in similarly treated wild-type mice

Genotype
MGI:3513541

hm2

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

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

Genotype
MGI:5525145

cx3

• Allelic Composition: Slc12a3^tm1Ges/Slc12a3^tm1Ges; Tg(Wnk4*Q562E)#Rpl/Tg(Wnk4*Q562E)#Rpl
• Genetic Background: involves: C3H * C57BL/6

cardiovascular system

cardiovascular system phenotype ( J:113094 )

N • on both normal and high-potassium diets, mice show reduced blood pressure levels compared to single Tg(Wnk4*Q562E)#Rpl homozygotes

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:113094 )

N • on both normal and high-potassium diets, mice show normal serum potassium and calcium levels

renal/urinary system

renal/urinary system phenotype ( J:113094 )

N • on both normal and high-potassium diets, mice show elimination of distal convoluted tube hyperplasia