Phenotypes associated with this allele

• Allele Symbol: Cd2ap^em1Irgu
• Allele Name: endonuclease-mediated mutation 1, Indra R Gupta
• Allele ID: MGI:6476759
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cd2ap^em1Irgu/Cd2ap^em1Irgu	C57BL/6-Cd2ap^em1Irgu	MGI:6476763

Genotype
MGI:6476763

hm1

• Allelic Composition: Cd2ap^em1Irgu/Cd2ap^em1Irgu
• Genetic Background: C57BL/6-Cd2ap^em1Irgu

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

growth/size/body

postnatal growth retardation ( J:294238 )

• mice fail to thrive and clear growth retardation is seen after 5 to 6 weeks

homeostasis/metabolism

increased circulating creatinine level ( J:294238 )

• serum creatinine levels are elevated at 4 to 6 weeks of age

increased blood urea nitrogen level ( J:294238 )

• blood urea nitrogen levels are elevated at 4 to 6 weeks of age

decreased circulating serum albumin level ( J:294238 )

• serum albumin levels are decreased at 4 to 6 weeks of age

increased urine protein level ( J:294238 )

albuminuria ( J:294238 )

• mice exhibit albuminuria as early as 2 to 3 weeks of age

immune system

kidney inflammation ( J:294238 )

• kidneys show interstitial leukocyte infiltration

mortality/aging

premature death ( J:294238 )

• mice die between 6 and 8 weeks of age, most likely from kidney failure

renal/urinary system

increased urine protein level ( J:294238 )

albuminuria ( J:294238 )

• mice exhibit albuminuria as early as 2 to 3 weeks of age

kidney inflammation ( J:294238 )

• kidneys show interstitial leukocyte infiltration

glomerulosclerosis ( J:294238 )

• minor glomerulosclerosis is seen as early as 2 weeks of age which becomes more pronounced at 4 to 6 weeks of age

renal tubule atrophy ( J:294238 )

• kidneys show some tubular atrophy at 2 weeks of age which becomes more pronounced at 4 to 6 weeks of age

kidney failure ( J:294238 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
end stage renal disease		DOID:783		J:294238
focal segmental glomerulosclerosis 3		DOID:0112245	OMIM:607832	J:294238