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Phenotypes Associated with This Genotype
Genotype
MGI:2449114
Allelic
Composition
Aprttm1Jat/Aprttm1Jat
Genetic
Background
involves: 129S2/SvPas * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aprttm1Jat mutation (2 available); any Aprt mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Kidney histopathology of a Aprttm1Jat/AprttmiJat mouse

mortality/aging
• Background Sensitivity: death on average around 180 days of age for about 35% of mice (J:33255)
• 3X more prevalent in males than in females (J:33255)
• Background Sensitivity: death on average around 180 days of age for about 35% of mice (J:33255)
• 3X more prevalent in males than in females (J:33255)

growth/size/body
• health deteriorates after weaning in the 35% of mice showing weight loss (J:33255)
• health deteriorates after weaning in the 35% of mice showing weight loss (J:33255)

behavior/neurological
• higher water intake in males (J:111451)
• higher water intake in males (J:111451)
• appears around 3-4 months of age (J:33255)
• appears around 3-4 months of age (J:33255)

reproductive system
N
• Background Sensitivity: fertility is normal on this background (J:33255)
• Background Sensitivity: fertility is normal on this background (J:33255)

homeostasis/metabolism
• elevated blood urea nitrogen levels which improve at later ages, probably due to the death of more severely affected mice (J:111451)
• elevated blood urea nitrogen levels which improve at later ages, probably due to the death of more severely affected mice (J:111451)
• Background Sensitivity: excretion primarily of adenine which is more soluble than dihydroxyadenine (J:33255)
• Background Sensitivity: excretion primarily of adenine which is more soluble than dihydroxyadenine (J:33255)
• uric acid excretion is about 50% of controls (J:33255)
• uric acid excretion is about 50% of controls (J:33255)
• excretion of crystals in urine as early as 40 weeks in 50% of mice (J:111451)
• excretion of crystals in urine as early as 40 weeks in 50% of mice (J:111451)

renal/urinary system
• Background Sensitivity: excretion primarily of adenine which is more soluble than dihydroxyadenine (J:33255)
• Background Sensitivity: excretion primarily of adenine which is more soluble than dihydroxyadenine (J:33255)
• uric acid excretion is about 50% of controls (J:33255)
• uric acid excretion is about 50% of controls (J:33255)
• excretion of crystals in urine as early as 40 weeks in 50% of mice (J:111451)
• excretion of crystals in urine as early as 40 weeks in 50% of mice (J:111451)
• mild to moderate kidney inflammation at 4 weeks of age (J:33255)
• severe parenchymal damage by 8-24 weeks (J:33255)
• as much as 50-80% of kidneys may exhibit severe inflammation and fibrosis (J:33255)
• mild to moderate kidney inflammation at 4 weeks of age (J:33255)
• severe parenchymal damage by 8-24 weeks (J:33255)
• as much as 50-80% of kidneys may exhibit severe inflammation and fibrosis (J:33255)
• in 12 week old males (J:111451)
• in 12 week old males (J:111451)
• in 85% at 12 weeks of age including collase of tubules (J:111451)
• damage much more severe in males than females (J:111451)
• in 85% at 12 weeks of age including collase of tubules (J:111451)
• damage much more severe in males than females (J:111451)
• 10-20% of tubules are dilated but glomeruli are generally normal (J:33255)
• tubule dilation as early as 4 weeks of age (J:33255)
• 10-20% of tubules are dilated but glomeruli are generally normal (J:33255)
• tubule dilation as early as 4 weeks of age (J:33255)
• rays of tubular necrosis and regeneration surrounding areas of crystal formation (J:33255)
• rays of tubular necrosis and regeneration surrounding areas of crystal formation (J:33255)
• necrosis and fibrosis as early as 4 weeks of age (J:111451)
• necrosis and fibrosis as early as 4 weeks of age (J:111451)
• intracellular and intratubular crystal formation (J:33255)
• crystals and stones increase with age (J:33255)
• intracellular and intratubular crystal formation (J:33255)
• crystals and stones increase with age (J:33255)
• crystal formation much more severe in males (J:111451)
• crystal formation much more severe in males (J:111451)
• as much as 50-80% of kidneys may exhibit severe inflammation and fibrosis (J:33255)
• as much as 50-80% of kidneys may exhibit severe inflammation and fibrosis (J:33255)
• urinary crystals and stones in the bladder are composed of dihydroxyadenine (J:33255)
• urinary crystals and stones in the bladder are composed of dihydroxyadenine (J:33255)
• 51% of normal in males (J:111451)
• 51% of normal in males (J:111451)
• increased urine excretion in males (J:111451)
• increased urine excretion in males (J:111451)

hematopoietic system
• in 12 week old males (J:111451)
• in 12 week old males (J:111451)

immune system
• mild to moderate kidney inflammation at 4 weeks of age (J:33255)
• severe parenchymal damage by 8-24 weeks (J:33255)
• as much as 50-80% of kidneys may exhibit severe inflammation and fibrosis (J:33255)
• mild to moderate kidney inflammation at 4 weeks of age (J:33255)
• severe parenchymal damage by 8-24 weeks (J:33255)
• as much as 50-80% of kidneys may exhibit severe inflammation and fibrosis (J:33255)

integument
• Background Sensitivity: symptoms appear around 3-4 months of age (J:33255)
• Background Sensitivity: symptoms appear around 3-4 months of age (J:33255)

Mouse Models of Human Disease
OMIM ID Ref(s)
Adenine Phosphoribosyltransferase Deficiency; APRTD 614723 J:33255


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