Phenotypes associated with this allele

• Allele Symbol: Slc12a3^em4Gpt
• Allele Name: endonuclease-mediated mutation 4, GemPharmatech Co., Ltd
• Allele ID: MGI:7495477
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc12a3^em4Gpt/Slc12a3^em4Gpt	involves: C57BL/6	MGI:7495509
ht2	Slc12a3^em3Gpt/Slc12a3^em4Gpt	involves: C57BL/6	MGI:7495510

Genotype
MGI:7495509

hm1

• Allelic Composition: Slc12a3^em4Gpt/Slc12a3^em4Gpt
• Genetic Background: involves: C57BL/6

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

homeostasis/metabolism

decreased circulating magnesium level ( J:336073 )

hypokalemia ( J:336073 )

increased urine potassium level ( J:336073 )

• mice exhibit increased fraction of potassium excretion in urine

• however, excretion of calcium in urine is normal

renal/urinary system

increased urine potassium level ( J:336073 )

• mice exhibit increased fraction of potassium excretion in urine

• however, excretion of calcium in urine is normal

polyuria ( J:336073 )

growth/size/body

growth/size/body region phenotype ( J:336073 )

N • mice exhibit normal weight

Genotype
MGI:7495510

ht2

• Allelic Composition: Slc12a3^em3Gpt/Slc12a3^em4Gpt
• Genetic Background: involves: C57BL/6

homeostasis/metabolism

decreased circulating magnesium level ( J:336073 )

• mice exhibit hypomagnesemia

• no differences in serum magnesium are seen between males and females

• however, serum creatinine concentration is normal

hypokalemia ( J:336073 )

• mice exhibit hypokalemia

• no differences in serum potassium are seen between males and females

increased urine potassium level ( J:336073 )

• mice exhibit increased fraction of potassium excretion in urine

• no differences in fractional excretion of potassium are seen between males and females

increased urine magnesium level ( J:336073 )

• mice exhibit increased fractional excretion of magnesium

• no differences in fractional excretion of magnesium are seen between males and females

decreased physiological sensitivity to xenobiotic ( J:336073 )

• in response to hydrochlorothiazide (an SLC12A3 inhibitor) treatment, urine amount and fractional excretion of potassium and sodium are increased in wild-type mice but are blunted in mutants, indicating that mutant SLC12A3 function is diminished

renal/urinary system

increased urine potassium level ( J:336073 )

• mice exhibit increased fraction of potassium excretion in urine

• no differences in fractional excretion of potassium are seen between males and females

increased urine magnesium level ( J:336073 )

• mice exhibit increased fractional excretion of magnesium

• no differences in fractional excretion of magnesium are seen between males and females

polyuria ( J:336073 )

• mice exhibit increased volume of urine

• however, excretion of calcium in urine is normal

cardiovascular system

cardiovascular system phenotype ( J:336073 )

N • blood pressure is normal

growth/size/body

growth/size/body region phenotype ( J:336073 )

N • mice exhibit normal weight

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Gitelman syndrome		DOID:0050450	OMIM:263800	J:336073