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Phenotypes Associated with This Genotype
involves: 129P2/OlaHsd * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aprttm1Dwm mutation (0 available); any Aprt mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• lethality was checked at weaning and so may represent embryonic lethality as well
• Background Sensitivity: lethality less severe than on an inbred 129P2/OlaHsd background
• 90% dead by 6 months of age
• most severely runted individuals usually die first
• survival improved by treatment with xanthine oxidase inhibitors (allopurinol)
• Background Sensitivity: seen primarily on this mixed background since early lethality was so severe on the inbred 129P2/OlaHsd background

renal/urinary system
• crystalline deposits and calculi
• elevated adenine and 2,8 dihydroadenine in urine
• irregular surface
• color varies from red to yellow
• crystalline deposits and calculi
• cystic dilation of Bowman's capsule
• destroyed when hydronephrosis present
• destruction often extends into cortex
• extreme hydronephrosis often seen even when color normal
• fibrosis and crystalline aggregates in proximal tubule
• sloughing of tubular epithelium
• by 6 months extreme dilation seen
• blockage of renal tubules by protein casts seen at 6 months
• crystalline deposits and calculi

• crystalline deposits and calculi
• elevated adenine and 2,8 dihydroadenine in urine

• starting at birth and persisting throughout life
• runting is sometimes severe
• runting corrected if treated from conception with allopurinol

• often seen before death

reproductive system
• although neither sex is inherently infertile, matings between homozygotes fail to produce litters
• corrected by allopurinol treatment

• loss of condition often precedes death

Mouse Models of Human Disease
OMIM ID Ref(s)
Adenine Phosphoribosyltransferase Deficiency; APRTD 614723 J:38450

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory