Phenotypes Associated with This Genotype

Genotype
MGI:3778899

• Allelic Composition: Pnp^f/Pnp^f
• 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 substantially more inosine, guanosine and deoxyribonucleotides in urine than do controls

decreased purine-nucleoside phosphorylase activity ( J:23354 )

• 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

abnormal urine nucleotide level ( J:23354 )

• excrete substantially more inosine, guanosine and deoxyribonucleotides in urine than do controls

immune system

increased double-negative T cell number ( J:522 )

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

hematopoietic system

increased double-negative T cell number ( J:522 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
purine nucleoside phosphorylase deficiency		DOID:5813	OMIM:613179	J:23354