Phenotypes Associated with This Genotype

Genotype
MGI:5779963

• Allelic Composition: Atp6ap2^tm1.1Ics/Y; Tg(NPHS2-cre)295Lbh/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

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

mortality/aging

postnatal lethality, complete penetrance ( J:232697 )

♂ • between 2 and 3 weeks after birth

renal/urinary system

increased podocyte apoptosis ( J:232697 )

♂

increased urine protein level ( J:232697 )

♂ • by 14 days

albuminuria ( J:232697 )

♂ • at P2

abnormal podocyte morphology ( J:232697 )

♂ • impaired vacuolar acidification with abnormal cytoskeleton organization and cell death

podocyte foot process effacement ( J:232697 )

♂

abnormal renal tubule epithelium morphology ( J:232697 )

♂ • massive protein enrichment

absent proximal convoluted tubule brush border ( J:232697 )

♂

dilated renal tubule ( J:232697 )

♂

renal cast ( J:232697 )

♂ • protein casts in renal tubules

homeostasis/metabolism

impaired autophagy ( J:232697 )

♂ • impaired in podocytes

increased circulating creatinine level ( J:232697 )

♂ • by 14 days

increased blood urea nitrogen level ( J:232697 )

♂ • by 14 days

increased circulating cholesterol level ( J:232697 )

♂ • by 14 days

decreased circulating serum albumin level ( J:232697 )

♂ • by 14 days

increased urine protein level ( J:232697 )

♂ • by 14 days

albuminuria ( J:232697 )

♂ • at P2

cellular

abnormal cell cytoskeleton morphology ( J:232697 )

♂ • impaired vacuolar acidification with abnormal cytoskeleton organization and cell death

impaired autophagy ( J:232697 )

♂ • impaired in podocytes

increased podocyte apoptosis ( J:232697 )

♂