Phenotypes Associated with This Genotype

Genotype
MGI:3805709

• Allelic Composition: Pdss2^kd/Pdss2^kd
• Genetic Background: involves: C57BL/6 * CBA/H

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

renal/urinary system

kidney cyst ( J:170955 )

• microcysts

abnormal glomerular capsule parietal layer morphology ( J:170955 )

• focal injury to the parietal epithelium lining Bowman's capsule

abnormal podocyte morphology ( J:170955 )

• focal loss of primary processes of podocytes, and hyperplastic and hypertrophic podocytes

• diseased podocytes contain abnormal mitochondria

podocyte foot process effacement ( J:170955 )

• extensive foot process effacement with marked condensation of the actin cytoskeleton

abnormal renal glomerulus basement membrane morphology ( J:170955 )

• folding and wrinkling of the glomerular basement membrane

abnormal renal glomerulus morphology ( J:170955 )

• variable, age-dependent penetrance of collapsing glomerulopathy; segmental and global collapse of capillary loops with folding and wrinkling of the glomerular basement membrane

glomerulosclerosis ( J:170955 )

• diseased glomeruli show segmental and global sclerosis

renal interstitial fibrosis ( J:170955 )

renal tubule atrophy ( J:170955 )

• tubular atrophy

cellular

abnormal cellular respiration ( J:136670 )

• impaired mitochondrial respiration

abnormal mitochondrial ATP synthesis coupled electron transport ( J:136670 )

• significant decrease in complex I and complex II-dependent respiratory chain capacity in liver

growth/size/body

kidney cyst ( J:170955 )

• microcysts