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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 (14 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
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
04/26/2016
MGI 6.03
The Jackson Laboratory