Phenotypes Associated with This Genotype

Genotype
MGI:5698063

• Allelic Composition: Kcnj10^tm1Lst/Kcnj10^tm1Lst
• Genetic Background: involves: 129S1/Sv

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

mortality/aging

postnatal lethality, complete penetrance ( J:226598 )

• mice die after P8

growth/size/body

postnatal growth retardation ( J:226598 )

• mice show virtually no growth after P4

homeostasis/metabolism

decreased urine creatinine level ( J:226598 )

• in the neonatal period, all mice exhibit lower urinary creatinine concentration

decreased urine calcium level ( J:226598 )

• reduction in calcium excretion

increased urine sodium level ( J:226598 )

• urinary sodium concentration is elevated, indicating renal salt loss

renal/urinary system

decreased urine creatinine level ( J:226598 )

• in the neonatal period, all mice exhibit lower urinary creatinine concentration

decreased urine calcium level ( J:226598 )

• reduction in calcium excretion

increased urine sodium level ( J:226598 )

• urinary sodium concentration is elevated, indicating renal salt loss

abnormal renal tubule morphology ( J:226598 )

• mice exhibit tubulopathy

polyuria ( J:226598 )

• polyuria in all mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
EAST syndrome		DOID:0060484	OMIM:612780	J:226598