Phenotypes Associated with This Genotype

Genotype
MGI:3778897

• Allelic Composition: Pnp^e/Pnp^e
• Genetic Background: involves: C3H/HeHa * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

abnormal urine nucleotide level ( J:23354 )

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

decreased purine-nucleoside phosphorylase activity ( J:23354 )

• 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

abnormal urine nucleotide level ( J:23354 )

• 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