Phenotypes Associated with This Genotype

Genotype
MGI:2181800

• Allelic Composition: Scnn1b^tm1Wsh/Scnn1b^tm1Wsh
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

mortality/aging

neonatal lethality, complete penetrance ( J:53058 )

• die within 2 days after birth

homeostasis/metabolism

increased circulating aldosterone level ( J:53058 )

increased circulating potassium level ( J:53058 )

• hyperkalemia

decreased circulating sodium level ( J:53058 )

• hyponatremia

increased circulating chloride level ( J:53058 )

abnormal urine homeostasis ( J:53058 )

• lower potassium concentration and higher sodium concentration in the urine, but the chloride concentration is normal

growth/size/body

decreased body weight ( J:53058 )

renal/urinary system

abnormal urine homeostasis ( J:53058 )

• lower potassium concentration and higher sodium concentration in the urine, but the chloride concentration is normal

respiratory system

respiratory system phenotype ( J:53058 )

N • do not exhibit respiratory failure or abnormal breathing and have normal lungs

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive pseudohypoaldosteronism type 1		DOID:0060854	OMIM:264350	J:53058