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Phenotypes Associated with This Genotype
Genotype
MGI:2449123
Allelic
Composition
Aprttm1Dwm/Aprttm1Dwm
Genetic
Background
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
mortality/aging
• lethality was checked at weaning and so may represent embryonic lethality as well (J:38450)
• Background Sensitivity: lethality less severe than on an inbred 129P2/OlaHsd background (J:38450)
• lethality was checked at weaning and so may represent embryonic lethality as well (J:38450)
• Background Sensitivity: lethality less severe than on an inbred 129P2/OlaHsd background (J:38450)
• 90% dead by 6 months of age (J:38450)
• most severely runted individuals usually die first (J:38450)
• survival improved by treatment with xanthine oxidase inhibitors (allopurinol) (J:38450)
• Background Sensitivity: seen primarily on this mixed background since early lethality was so severe on the inbred 129P2/OlaHsd background (J:38450)
• 90% dead by 6 months of age (J:38450)
• most severely runted individuals usually die first (J:38450)
• survival improved by treatment with xanthine oxidase inhibitors (allopurinol) (J:38450)
• Background Sensitivity: seen primarily on this mixed background since early lethality was so severe on the inbred 129P2/OlaHsd background (J:38450)

renal/urinary system
• crystalline deposits and calculi (J:38450)
• crystalline deposits and calculi (J:38450)
• elevated adenine and 2,8 dihydroadenine in urine (J:38450)
• elevated adenine and 2,8 dihydroadenine in urine (J:38450)
• irregular surface (J:38450)
• color varies from red to yellow (J:38450)
• crystalline deposits and calculi (J:38450)
• irregular surface (J:38450)
• color varies from red to yellow (J:38450)
• crystalline deposits and calculi (J:38450)
• cystic dilation of Bowman's capsule (J:38450)
• cystic dilation of Bowman's capsule (J:38450)
• destroyed when hydronephrosis present (J:38450)
• destruction often extends into cortex (J:38450)
• destroyed when hydronephrosis present (J:38450)
• destruction often extends into cortex (J:38450)
• extreme hydronephrosis often seen even when color normal (J:38450)
• extreme hydronephrosis often seen even when color normal (J:38450)
• fibrosis and crystalline aggregates in proximal tubule (J:38450)
• sloughing of tubular epithelium (J:38450)
• fibrosis and crystalline aggregates in proximal tubule (J:38450)
• sloughing of tubular epithelium (J:38450)
• by 6 months extreme dilation seen (J:38450)
• by 6 months extreme dilation seen (J:38450)
• blockage of renal tubules by protein casts seen at 6 months (J:38450)
• blockage of renal tubules by protein casts seen at 6 months (J:38450)
• crystalline deposits and calculi (J:38450)
• crystalline deposits and calculi (J:38450)

homeostasis/metabolism
• crystalline deposits and calculi (J:38450)
• crystalline deposits and calculi (J:38450)
• elevated adenine and 2,8 dihydroadenine in urine (J:38450)
• elevated adenine and 2,8 dihydroadenine in urine (J:38450)

growth/size/body
• starting at birth and persisting throughout life (J:38450)
• runting is sometimes severe (J:38450)
• runting corrected if treated from conception with allopurinol (J:38450)
• starting at birth and persisting throughout life (J:38450)
• runting is sometimes severe (J:38450)
• runting corrected if treated from conception with allopurinol (J:38450)

behavior/neurological
• often seen before death (J:38450)
• often seen before death (J:38450)

reproductive system
• although neither sex is inherently infertile, matings between homozygotes fail to produce litters (J:38450)
• corrected by allopurinol treatment (J:38450)
• although neither sex is inherently infertile, matings between homozygotes fail to produce litters (J:38450)
• corrected by allopurinol treatment (J:38450)

integument
• loss of condition often precedes death (J:38450)
• loss of condition often precedes death (J:38450)

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
02/02/2016
MGI 6.02
The Jackson Laboratory