Phenotypes Associated with This Genotype

Genotype
MGI:3579632

• Allelic Composition: Cd2ap^tm1Shaw/Cd2ap⁺
• Genetic Background: Not Specified

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

renal/urinary system

abnormal podocyte morphology ( J:84748 )

• ferritin injection did not induce the formation of multivesicular bodies as it did in wildtype

abnormal renal glomerulus morphology ( J:84748 )

• exhibited glomerular lesions of varying degrees at 9 months of age but not at 6 months of age and this pathology at 9 months of age was similar to that seen in 3-4 week old homozygous null mice

• observed infiltration of inflammatory leukocytes in some glomeruli

• observed electon-dense mesangial deposits that occluded the capillary lumen, subepithelial and subendothelial deposits along the glomerular basement membrane, and in some older mice, highly organized microtubular deposits in the mesangium

increased mesangial cell number ( J:84748 )

• exhibited increased mesangial cellularity at 9 months of age but not at 6 months of age

expanded mesangial matrix ( J:84748 )

• exhibited expansion of the mesangial matrix at 9 months of age but not at 6 months of age

abnormal kidney physiology ( J:84748 )

• observed immunoglobulin deposits in either punctate or linear patterns at the glomerular basement membrane in 4 out of 20 heterozygotes, however did not develop proteinuria

homeostasis/metabolism

increased susceptibility to injury ( J:84748 )

• increased susceptibility to glomerular injury when injected with a low dose of nephrotoxic antibody, with heterozygotes developing more severe and persistent proteinuria and even resulting in death of some mutants compared to wildtype

cellular

increased mesangial cell number ( J:84748 )

• exhibited increased mesangial cellularity at 9 months of age but not at 6 months of age