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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Wnk4tm1Pfi
targeted mutation 1, Pfizer, Ltd
MGI:5427702
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Wnk4tm1Pfi/Wnk4tm1Pfi involves: 129S6/SvEvTac * C57BL/6J MGI:5427703


Genotype
MGI:5427703
hm1
Allelic
Composition
Wnk4tm1Pfi/Wnk4tm1Pfi
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Wnk4tm1Pfi mutation (0 available); any Wnk4 mutation (58 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• natriuretic effect of hydrochlorothiazide is almost abolished
• when on a normal or low salt diet
• infusion of AngII fails to reduce Na+ secretion at day 1 unlike in wild-type controls
• when on a normal or low salt diet
• 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
• 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
N
• circulating calcium levels are normal
• infusion of AngII fails to increase plasma aldosterone concentration unlike in wild-type controls
• when on a normal diet
• 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
• increase in plasm renin activity
• mild hypochloremia when on a normal diet
• metabolic alkalosis when on a normal diet
• when on a normal or low salt diet
• infusion of AngII fails to reduce Na+ secretion at day 1 unlike in wild-type controls
• when on a normal or low salt diet
• 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
• natriuretic effect of hydrochlorothiazide is almost abolished

cardiovascular system
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





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory