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Phenotypes Associated with This Genotype
Genotype
MGI:3778899
Allelic
Composition
Pnpf/Pnpf
Genetic
Background
involves: C3H/HeHa * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pnpf mutation (0 available); any Pnp mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• excrete substantially more inosine, guanosine and deoxyribonucleotides in urine than do controls (J:23354)
• excrete substantially more inosine, guanosine and deoxyribonucleotides in urine than do controls (J:23354)
• reduced purine nucleoside phosphorylase activity in erythrocytes to 5% of controls (J:23354)
• reduced PNP activity to 0.1% of control levels in liver and kidney (J:23354)
• reduced purine nucleoside phosphorylase activity in erythrocytes to 5% of controls (J:23354)
• reduced PNP activity to 0.1% of control levels in liver and kidney (J:23354)

renal/urinary system
• excrete substantially more inosine, guanosine and deoxyribonucleotides in urine than do controls (J:23354)
• excrete substantially more inosine, guanosine and deoxyribonucleotides in urine than do controls (J:23354)

immune system
• 10 fold increase of double negative T cells to 40% of total thymocytes (J:522)
• 10 fold increase of double negative T cells to 40% of total thymocytes (J:522)

hematopoietic system
• 10 fold increase of double negative T cells to 40% of total thymocytes (J:522)
• 10 fold increase of double negative T cells to 40% of total thymocytes (J:522)

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


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