Phenotypes Associated with This Genotype

Genotype
MGI:3587727

• Allelic Composition: Nphs1^tm1Rkl/Nphs1^tm1Rkl
• Genetic Background: involves: 129S2/SvPasCrl

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

mortality/aging

postnatal lethality, complete penetrance ( J:78616 )

• homozygous mutant mice die at 2 days of age

renal/urinary system

increased urine protein level ( J:78616 )

• massive glomerular vascular leakage (GVL) of plasma protien was demonstrated by SDS-PAGE of urine from 1 day old mutant mice

increased glomerular capsule space ( J:78616 )

• histological examination reveals enlargement of Bowman's space

absent podocyte slit diaphragm ( J:78616 )

• electronglomerular epithelial slit diaphragms (GESD) are absent

dilated renal tubule ( J:78616 )

homeostasis/metabolism

increased urine protein level ( J:78616 )

• massive glomerular vascular leakage (GVL) of plasma protien was demonstrated by SDS-PAGE of urine from 1 day old mutant mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nephrotic syndrome		DOID:1184		J:78616