Phenotypes associated with this allele

• Allele Symbol: Cd2ap^tm1Shaw
• Allele Name: targeted mutation 1, Andrey S Shaw
• Allele ID: MGI:2664945
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cd2ap^tm1Shaw/Cd2ap^tm1Shaw	involves: 129X1/SvJ	MGI:2673126
ht2	Cd2ap^tm1Shaw/Cd2ap^+	Not Specified	MGI:3579632

Genotype
MGI:2673126

hm1

• Allelic Composition: Cd2ap^tm1Shaw/Cd2ap^tm1Shaw
• Genetic Background: involves: 129X1/SvJ

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

mortality/aging

premature death ( J:57971 )

• most dead between 6 and 7 weeks of age

cardiovascular system

enlarged heart ( J:57971 )

• hypertrophy

growth/size/body

enlarged heart ( J:57971 )

• hypertrophy

postnatal growth retardation ( J:57971 )

• evident beginning at about 3 weeks of age

hematopoietic system

decreased T cell proliferation ( J:57971 )

• in response to either concanavalin A (ConA) or CD3

thymus atrophy ( J:57971 )

spleen atrophy ( J:57971 )

homeostasis/metabolism

increased circulating creatinine level ( J:57971 )

• elevated in blood

increased blood urea nitrogen level ( J:57971 )

• elevated

decreased circulating serum albumin level ( J:57971 )

• decreased in serum

ascites ( J:57971 )

increased urine protein level ( J:57971 )

immune system

decreased T cell proliferation ( J:57971 )

• in response to either concanavalin A (ConA) or CD3

thymus atrophy ( J:57971 )

spleen atrophy ( J:57971 )

renal/urinary system

increased mesangial cell number ( J:57971 )

• hyperplasia

increased urine protein level ( J:57971 )

abnormal podocyte morphology ( J:57971 )

• loss of integrity between cells, evident at 1 week of age and progressive

glomerulosclerosis ( J:57971 )

• evident by 4 weeks of age

renal glomerulus hypertrophy ( J:57971 )

• increased size and cellularity, porgressivley worse with age

endocrine/exocrine glands

thymus atrophy ( J:57971 )

cellular

increased mesangial cell number ( J:57971 )

• hyperplasia

decreased T cell proliferation ( J:57971 )

• in response to either concanavalin A (ConA) or CD3

Genotype
MGI:3579632

ht2

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

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