Mouse Genome Informatics
hm
    Pnpe/Pnpe
involves: C3H/HeHa * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
homeostasis/metabolism
• excrete 15X more inosine and some guanosine in urine as compared to controls but no deoxyribonucleotides
• reduced purine nucleoside phosphorylase activity in erythrocytes to 17% of controls
• reduced PNP activity to 7% of control levels in liver and kidney

renal/urinary system
• excrete 15X more inosine and some guanosine in urine as compared to controls but no deoxyribonucleotides

Mouse Models of Human Disease
OMIM IDRef(s)
Purine Nucleoside Phosphorylase Deficiency 613179 J:23354