Phenotypes Associated with This Genotype

Genotype
MGI:3796438

• Allelic Composition: Scnn1b^tm1.1Ipt/Scnn1b^tm1.1Ipt
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB/N

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

cardiovascular system

cardiac hypertrophy ( J:59840 )

• mice fed a high salt diet develop cardiac hypertrophy

hypervolemia ( J:59840 )

• mice fed a normal salt diet exhibit increased sodium reabsorption in the distal colon and low plasma aldosterone, suggesting chronic hypervolemia (high blood volume)

salt-sensitive hypertension ( J:59840 )

• mice fed a high salt diet develop high blood pressure

• however, mice fed a normal salt diet develop normally during the first 3 months of life and have normal blood pressure

homeostasis/metabolism

decreased circulating aldosterone level ( J:59840 )

• mice fed a normal salt diet exhibit low plasma aldosterone

hypokalemia ( J:59840 )

• mice fed a high salt diet develop hypokalemia accompanied by cardiac and renal hypertrophy

alkalosis ( J:59840 )

• mice fed a high salt diet develop metabolic alkalosis

renal/urinary system

abnormal kidney morphology ( J:59840 )

• mice fed a high salt diet develop renal hypertrophy

digestive/alimentary system

abnormal digestive system physiology ( J:59840 )

• mice fed a normal salt diet exhibit increased sodium reabsorption in the distal colon

growth/size/body

cardiac hypertrophy ( J:59840 )

• mice fed a high salt diet develop cardiac hypertrophy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Liddle syndrome		DOID:0050477	OMIM:177200	J:59840