Phenotypes Associated with This Genotype

Genotype
MGI:6160427

• Allelic Composition: Fat1^tm1.1Nsib/Fat1^tm1.1Nsib; Tg(NPHS2-cre)295Lbh/0
• Genetic Background: involves: 129/Sv * 129S4/SvJaeSor * C57BL/6 * C57BL/6J * SJL

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

homeostasis/metabolism

increased urine protein level ( J:234732 )

• adults develop progressive proteinuria with massive albuminuria at 40 months of age

albuminuria ( J:234732 )

• massive albuminuria is seen at 40 months of age, about 60-fold higher than in controls

• however, serum albumin is not different

renal/urinary system

increased urine protein level ( J:234732 )

• adults develop progressive proteinuria with massive albuminuria at 40 months of age

albuminuria ( J:234732 )

• massive albuminuria is seen at 40 months of age, about 60-fold higher than in controls

• however, serum albumin is not different

abnormal podocyte morphology ( J:234732 )

• adults show collapsed F-actin in podocytes

• cell junctions of effaced foot processes resemble tight junctions

podocyte foot process effacement ( J:234732 )

• adults show widespread foot process effacement

abnormal podocyte slit diaphragm morphology ( J:234732 )

• newborns exhibit persistence of cuboidal podocytes, wide foot processes and tight-junction-like cell junctions in lieu of slit-diaphragms

• slit-diaphragms are decreased in adults

podocyte microvillus transformation ( J:234732 )

• adults show microvillar transformation

glomerulosclerosis ( J:234732 )

• adults exhibit focal segmental glomerulosclerosis, with the presence of protein casts and tubulointerstitial nephropathy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nephrotic syndrome		DOID:1184		J:234732