Phenotypes Associated with This Genotype

Genotype
MGI:2678505

• Allelic Composition: Nphs1^{Gt(pT1Betageo)1Ruiz}/Nphs1^{Gt(pT1Betageo)1Ruiz}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:86048 )

• 13 of 14 homozygotes die shortly after birth

postnatal lethality, complete penetrance ( J:86048 )

• one mouse survived for 7 days, but was reduced in size relative to wild-type and exhibited severe proteinuria

renal/urinary system

increased urine protein level ( J:86048 )

• severe proteinuria exhibited by a mouse that survived the perinatal period

abnormal kidney morphology ( J:85162 )

• described as nephrotic syndrome

abnormal podocyte foot process morphology ( J:86048 )

• 1/3 of foot processes display a flattened pattern

fused podocyte foot processes ( J:86048 )

• greater than 90% of podocyte foot processes are fused

abnormal podocyte slit junction morphology ( J:86048 )

• observed interpodocyte junctions show tight adherence

absent podocyte slit diaphragm ( J:86048 )

• occasional interpodocyte junctions appear as close contact areas that lack slit diaphragms

dilated renal glomerular capsule ( J:86048 )

abnormal renal glomerulus morphology ( J:86048 )

• fibrotic glomeruli with distorted structures and cystic tubular lesions

• glomeruli exhibit hypercellularity and excessive extracellular matrix deposition

expanded mesangial matrix ( J:86048 )

• excessive extracellular matrix deposition

renal glomerulus fibrosis ( J:86048 )

• fibrotic glomeruli

dilated renal tubule ( J:86048 )

• dilation of tubules

homeostasis/metabolism

increased urine protein level ( J:86048 )

• severe proteinuria exhibited by a mouse that survived the perinatal period

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nephrotic syndrome		DOID:1184		J:86048