Phenotypes associated with this allele

• Allele Symbol: Aprt^tm1Dwm
• Allele Name: targeted mutation 1, David W Melton
• Allele ID: MGI:2429961
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Aprt^tm1Dwm/Aprt^tm1Dwm	129P2/OlaHsd-Aprt^tm1Dwm	MGI:2449124
hm2	Aprt^tm1Dwm/Aprt^tm1Dwm	involves: 129P2/OlaHsd * BALB/c	MGI:2449123

Genotype
MGI:2449124

hm1

• Allelic Composition: Aprt^tm1Dwm/Aprt^tm1Dwm
• Genetic Background: 129P2/OlaHsd-Aprt^tm1Dwm

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

mortality/aging

premature death ( J:38450 )

• 90% dead by 6 months of age

• most severely runted individuals usually die first

• survival improved by treatment with xanthine oxidase inhibitors (allopurinol)

preweaning lethality, incomplete penetrance ( J:38450 )

• 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

aminoaciduria ( J:38450 )

• elevated adenine and 2,8 dihydroadenine in urine

colorless urine ( J:38450 )

pyelonephritis ( J:38450 )

• pyelonephritis caused by numerous neutrophils in dilated tubules

abnormal kidney morphology ( J:38450 )

• irregular surface

• color varies from red to pale yellow

• kidney size and appearance corrected by allopurinol treatment

dilated renal glomerular capsule ( J:38450 )

• cystic dilation of Bowman's capsule

renal interstitial fibrosis ( J:38450 )

• extensive fibrosis leading to scarring and tissue shrinkage

hydronephrosis ( J:38450 )

• extreme hydronephrosis often seen even when color normal

small kidney ( J:38450 )

kidney cortex atrophy ( J:38450 )

• destruction often extends into cortex

kidney medulla atrophy ( J:38450 )

• destruction of the medulla when hydronephrosis is present

abnormal proximal convoluted tubule morphology ( J:38450 )

• fibrosis and crystalline aggregates in proximal tubule

• sloughing of tubular epithelium

dilated renal tubule ( J:38450 )

• by 6 months extreme dilation seen

renal cast ( J:38450 )

• blockage of renal tubules by protein casts seen at 6 months

nephrolithiasis ( J:38450 )

• crystalline deposits and calculi

abnormal urinary bladder morphology ( J:38450 )

• crystalline deposits and calculi

homeostasis/metabolism

aminoaciduria ( J:38450 )

• elevated adenine and 2,8 dihydroadenine in urine

colorless urine ( J:38450 )

behavior/neurological

hunched posture ( J:38450 )

• often seen before death

reproductive system

reduced fertility ( J:38450 )

• although neither sex is inherently infertile, matings between homozygotes fail to produce litters

• corrected by allopurinol treatment

integument

abnormal coat appearance ( J:38450 )

• loss of condition often precedes death

immune system

pyelonephritis ( J:38450 )

• pyelonephritis caused by numerous neutrophils in dilated tubules

growth/size/body

decreased body size ( J:38450 )

• starting at birth and persisting throughout life

• runting is sometimes severe

• runting corrected if treated from conception with allopurinol

Genotype
MGI:2449123

hm2

• Allelic Composition: Aprt^tm1Dwm/Aprt^tm1Dwm
• Genetic Background: involves: 129P2/OlaHsd * BALB/c

mortality/aging

premature death ( J:38450 )

• 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

postnatal lethality, incomplete penetrance ( J:38450 )

• 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

renal/urinary system

abnormal urine homeostasis ( J:38450 )

• crystalline deposits and calculi

abnormal urine nucleoside level ( J:38450 )

• elevated adenine and 2,8 dihydroadenine in urine

abnormal kidney morphology ( J:38450 )

• irregular surface

• color varies from red to yellow

• crystalline deposits and calculi

dilated renal glomerular capsule ( J:38450 )

• cystic dilation of Bowman's capsule

abnormal kidney medulla morphology ( J:38450 )

• destroyed when hydronephrosis present

• destruction often extends into cortex

hydronephrosis ( J:38450 )

• extreme hydronephrosis often seen even when color normal

small kidney ( J:38450 )

abnormal proximal convoluted tubule morphology ( J:38450 )

• fibrosis and crystalline aggregates in proximal tubule

• sloughing of tubular epithelium

dilated renal tubule ( J:38450 )

• by 6 months extreme dilation seen

renal cast ( J:38450 )

• blockage of renal tubules by protein casts seen at 6 months

abnormal urinary bladder morphology ( J:38450 )

• crystalline deposits and calculi

homeostasis/metabolism

abnormal urine homeostasis ( J:38450 )

• crystalline deposits and calculi

abnormal urine nucleoside level ( J:38450 )

• elevated adenine and 2,8 dihydroadenine in urine

growth/size/body

decreased body size ( J:38450 )

• starting at birth and persisting throughout life

• runting is sometimes severe

• runting corrected if treated from conception with allopurinol

behavior/neurological

hunched posture ( J:38450 )

• often seen before death

reproductive system

reduced fertility ( J:38450 )

• although neither sex is inherently infertile, matings between homozygotes fail to produce litters

• corrected by allopurinol treatment

integument

abnormal coat appearance ( J:38450 )

• loss of condition often precedes death

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
adenine phosphoribosyltransferase deficiency		DOID:0060350	OMIM:614723	J:38450