Phenotypes Associated with This Genotype

Genotype
MGI:5427703

• Allelic Composition: Wnk4^tm1Pfi/Wnk4^tm1Pfi
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

renal/urinary system

abnormal renal/urinary system physiology ( J:184790 )

• natriuretic effect of hydrochlorothiazide is almost abolished

abnormal urine homeostasis ( J:184790 )

increased urine chloride ion level ( J:184790 )

• when on a normal or low salt diet

• infusion of AngII fails to reduce Na+ secretion at day 1 unlike in wild-type controls

increased urine potassium level ( J:184790 )

• when on a normal or low salt diet

increased urine sodium level ( J:184790 )

• when on a normal diet

• infusion of AngII fails to reduce Na+ secretion at day 1 unlike in wild-type controls

• however, on a low salt diet mice are able to reduce Na+ excretion similarly to wild-type controls

polyuria ( J:184790 )

• increase in urinary volume but, no difference in body weight, mice do not appear dehydrated and the ability to concentrate urine is similar to controls

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:184790 )

N • circulating calcium levels are normal

abnormal blood homeostasis ( J:184790 )

decreased circulating aldosterone level ( J:184790 )

• infusion of AngII fails to increase plasma aldosterone concentration unlike in wild-type controls

decreased circulating magnesium level ( J:184790 )

• when on a normal diet

hypokalemia ( J:184790 )

• mild when on a normal diet

• hypokalemia is aggravated when on a low K+ diet

• on a high K+ diet no difference in K+ levels are seen compared to controls

increased circulating renin level ( J:184790 )

• increase in plasm renin activity

decreased circulating chloride level ( J:184790 )

• mild hypochloremia when on a normal diet

alkalosis ( J:184790 )

• metabolic alkalosis when on a normal diet

abnormal urine homeostasis ( J:184790 )

increased urine chloride ion level ( J:184790 )

• when on a normal or low salt diet

• infusion of AngII fails to reduce Na+ secretion at day 1 unlike in wild-type controls

increased urine potassium level ( J:184790 )

• when on a normal or low salt diet

increased urine sodium level ( J:184790 )

• when on a normal diet

• infusion of AngII fails to reduce Na+ secretion at day 1 unlike in wild-type controls

• however, on a low salt diet mice are able to reduce Na+ excretion similarly to wild-type controls

decreased physiological sensitivity to xenobiotic ( J:184790 )

• natriuretic effect of hydrochlorothiazide is almost abolished

cardiovascular system

cardiovascular system phenotype ( J:184790 )

N • systolic blood pressure is similar to wild-type controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Gitelman syndrome		DOID:0050450	OMIM:263800	J:184790