Phenotypes Associated with This Genotype

Genotype
MGI:3796531

• Allelic Composition: Kcnk3^tm1.1Daba/Kcnk3^tm1.1Daba; Kcnk9^tm1.1Daba/Kcnk9^tm1.1Daba
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

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

homeostasis/metabolism

increased circulating aldosterone level ( J:131927 )

• males display primary hyperaldosteronism

• mutants fail to suppress aldosterone production in response to dietary sodium loading

• candesartan, an AT1R receptor blocker, does not normalize aldosterone production to control levels in mutants

hypokalemia ( J:131927 )

• mutants are mildly hypokalemic across all diets, with plasma potassium on the nonsalt diet reduced by about 25%

decreased circulating renin level ( J:131927 )

endocrine/exocrine glands

abnormal adrenal gland physiology ( J:131927 )

• adrenal zona glomerulosa cells display altered electrophysiological properties; the pH- and anesthetic-sensitive background currents are absent

• membrane potential is significantly more depolarized in mutant adrenal zona glomerulosa cells than in controls

• however, cellular morphology and zonation within the adrenal gland are normal in males

cardiovascular system

decreased heart rate ( J:131927 )

hypertension ( J:131927 )

nervous system

abnormal channel response ( J:131927 )

• adrenal zona glomerulosa cells display altered electrophysiological properties; the pH- and anesthetic-sensitive background currents are absent

• membrane potential is significantly more depolarized in mutant adrenal zona glomerulosa cells than in controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary hyperaldosteronism		DOID:446	OMIM:605635 OMIM:613677	J:131927