Phenotypes associated with this allele

• Allele Symbol: Aprt^tm1Vri
• Allele Name: targeted mutation 1, Harry Vrieling
• Allele ID: MGI:2654615
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Aprt^tm1Vri/Aprt^tm1Vri	involves: 129P2/OlaHsd * C57BL/6	MGI:2654616

Genotype
MGI:2654616

hm1

• Allelic Composition: Aprt^tm1Vri/Aprt^tm1Vri
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

premature death ( J:50874 )

• lifespan ranges from 6 weeks to 12 months, with a mean age of death at 6 months due to renal failure

postnatal lethality, incomplete penetrance ( J:50874 )

• only 5 and 8% of males and females, respectively, were weaned instead of the expected 12.5% for each sex

growth/size/body

decreased body size ( J:50874 )

• animals are 75% the size of wild-type animals at 4-11 weeks of age

• severely affected mice exhibit low body weight

renal/urinary system

kidney inflammation ( J:50874 )

• in overtly ill mice with severely affected kidneys

abnormal kidney morphology ( J:50874 )

• shrivelled and yellow kidneys

nephrolithiasis ( J:50874 )

• overtly ill mice have 2,8-dihydroxyadenine (DHA) crystals in the kidney tubules

renal fibrosis ( J:50874 )

• in overtly ill mice with severely affected kidneys

kidney failure ( J:50874 )

• renal failure

immune system

kidney inflammation ( J:50874 )

• in overtly ill mice with severely affected kidneys

reproductive system

reduced fertility ( J:50874 )

• fertility drops with deteriorating kidney function

behavior/neurological

hunched posture ( J:50874 )

• severely affected mice have a hunched posture

homeostasis/metabolism

dehydration ( J:50874 )

• severely affected mice appear dehydrated