Mouse Genome Informatics
hm
    Pnpf/Pnpf
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 substantially more inosine, guanosine and deoxyribonucleotides in urine than do controls
• reduced purine nucleoside phosphorylase activity in erythrocytes to 5% of controls
• reduced PNP activity to 0.1% of control levels in liver and kidney

renal/urinary system
• excrete substantially more inosine, guanosine and deoxyribonucleotides in urine than do controls

immune system
• 10 fold increase of double negative T cells to 40% of total thymocytes

hematopoietic system
• 10 fold increase of double negative T cells to 40% of total thymocytes

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