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Phenotypes Associated with This Genotype
Genotype
MGI:3778897
Allelic
Composition
Pnpe/Pnpe
Genetic
Background
involves: C3H/HeHa * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pnpe mutation (0 available); any Pnp mutation (17 available)
phenotype observed in females
phenotype observed in males
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
DO ID OMIM ID(s) Ref(s)
purine nucleoside phosphorylase deficiency DOID:5813 OMIM: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
07/11/2017
MGI 6.10
The Jackson Laboratory