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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Aprttm1Dwm
targeted mutation 1, David W Melton
MGI:2429961
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Aprttm1Dwm/Aprttm1Dwm 129P2/OlaHsd-Aprttm1Dwm MGI:2449124
hm2
Aprttm1Dwm/Aprttm1Dwm involves: 129P2/OlaHsd * BALB/c MGI:2449123


Genotype
MGI:2449124
hm1
Allelic
Composition
Aprttm1Dwm/Aprttm1Dwm
Genetic
Background
129P2/OlaHsd-Aprttm1Dwm
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aprttm1Dwm mutation (0 available); any Aprt mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 90% dead by 6 months of age
• most severely runted individuals usually die first
• survival improved by treatment with xanthine oxidase inhibitors (allopurinol)
• lethality was checked at weaning and so may represent embryonic lethality as well
• Background Sensitivity: lethality most severe on an inbred 129P2/OlaHsd background

renal/urinary system
• elevated adenine and 2,8 dihydroadenine in urine
• pyelonephritis caused by numerous neutrophils in dilated tubules
• irregular surface
• color varies from red to pale yellow
• kidney size and appearance corrected by allopurinol treatment
• cystic dilation of Bowman's capsule
• extensive fibrosis leading to scarring and tissue shrinkage
• extreme hydronephrosis often seen even when color normal
• destruction often extends into cortex
• destruction of the medulla when hydronephrosis is present
• 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

homeostasis/metabolism
• elevated adenine and 2,8 dihydroadenine in urine

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

behavior/neurological
• often seen before death

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

integument
• loss of condition often precedes death

immune system
• pyelonephritis caused by numerous neutrophils in dilated tubules




Genotype
MGI:2449123
hm2
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 (10 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
• 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

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

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

behavior/neurological
• often seen before death

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

integument
• loss of condition often precedes death

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





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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory