Phenotypes associated with this allele

• Allele Symbol: Stk39^tm1Pawe
• Allele Name: targeted mutation 1, Paul A Welling
• Allele ID: MGI:6423627
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Stk39^tm1Pawe/Stk39^tm1Pawe	involves: 129S6/SvEvTac * C57BL/6J	MGI:6423629
cn2	Stk39^tm1Pawe/Stk39^tm1Pawe Pvalb^tm1(cre)Arbr/Pvalb^+	B6.129-Stk39^tm1Pawe Pvalb^tm1(cre)Arbr	MGI:6423631

Genotype
MGI:6423629

hm1

• Allelic Composition: Stk39^tm1Pawe/Stk39^tm1Pawe
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

hematopoietic system

increased hematocrit ( J:287773 )

homeostasis/metabolism

increased blood urea nitrogen level ( J:287773 )

hypokalemia ( J:287773 )

alkalosis ( J:287773 )

• metabolic alkalosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Gitelman syndrome		DOID:0050450	OMIM:263800	J:287773

Genotype
MGI:6423631

cn2

• Allelic Composition: Stk39^tm1Pawe/Stk39^tm1Pawe; Pvalb^tm1(cre)Arbr/Pvalb⁺
• Genetic Background: B6.129-Stk39^tm1Pawe Pvalb^tm1(cre)Arbr

cardiovascular system

hypertension ( J:287773 )

• higher systolic and diastolic blood pressure

• hypertension is especially pronounced during the active, awake period

• hydrochlorothiazide (HCTZ) treatment normalizes blood pressure

salt-sensitive hypertension ( J:287773 )

• dietary salt loading exacerbates hypertension

renal/urinary system

decreased urine potassium level ( J:287773 )

• mice exhibit lower rates of urinary potassium excretion and are unable to develop a transtubular potassium gradient, indicating impaired potassium secretion from the aldosterone-sensitive distal nephron

• HCTZ restores urinary potassium excretion and transtubular potassium gradient

abnormal nephron morphology ( J:287773 )

• aldosterone-sensitive distal nephron mass is reduced

• length and area of cortical distal nephron segment DCT1 is increased with a commensurate decrease in the length and area of the CNT segment

• HCTZ treatment reverses the structural nephron remodeling

abnormal kidney physiology ( J:287773 )

• salt-sensitive hypertension with low rein indicates aberrant gain in renal sodium absorption

hematopoietic system

decreased hematocrit ( J:287773 )

homeostasis/metabolism

decreased blood urea nitrogen level ( J:287773 )

• reduction in BUN levels

• HCTZ treatment corrects BUN levels

hyperkalemia ( J:287773 )

• mice exhibit high plasma potassium levels

• a potassium-rich diet exacerbates hyperkalemia

• HCTZ corrects the hyperkalemia

increased circulating chloride level ( J:287773 )

decreased urine potassium level ( J:287773 )

• mice exhibit lower rates of urinary potassium excretion and are unable to develop a transtubular potassium gradient, indicating impaired potassium secretion from the aldosterone-sensitive distal nephron

• HCTZ restores urinary potassium excretion and transtubular potassium gradient

metabolic acidosis ( J:287773 )

decreased renin activity ( J:287773 )

• plasma renin activity is decreased

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pseudohypoaldosteronism		DOID:4479		J:287773