Mouse Genome Informatics
hm
    Aprttm1Jat/Aprttm1Jat
involves: 129S2/SvPas * Black Swiss
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• 3X more prevalent in males than in females

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

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

reproductive system
N
• 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
• Background Sensitivity: excretion primarily of adenine which is more soluble than dihydroxyadenine
• uric acid excretion is about 50% of controls
• excretion of crystals in urine as early as 40 weeks in 50% of mice

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

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

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

integument
• Background Sensitivity: symptoms appear around 3-4 months of age

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