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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Pnpe
NP-1E
MGI:3777967
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Pnpe/Pnpe C57BL/6J-Pnpe MGI:3778898
hm2
 		Pnpe/Pnpe involves: C3H/HeHa * C57BL/6J MGI:3778897


Genotype
MGI:3778898
hm1
Allelic
Composition		 Pnpe/Pnpe
Genetic
Background		 C57BL/6J-Pnpe
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pnpe mutation (0 available); any Pnp mutation (29 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
thymus hypoplasia ( J:39328 )
• marked and progressive decline in cellularity observable by 8 months of age
abnormal leukocyte physiology ( J:39328 )
• spleen leukocyte response to conA and IL-2 is somewhat impaired, being 60-69% of normal

hematopoietic system
thymus hypoplasia ( J:39328 )
• marked and progressive decline in cellularity observable by 8 months of age
abnormal leukocyte physiology ( J:39328 )
• spleen leukocyte response to conA and IL-2 is somewhat impaired, being 60-69% of normal

endocrine/exocrine glands
thymus hypoplasia ( J:39328 )
• marked and progressive decline in cellularity observable by 8 months of age

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
purine nucleoside phosphorylase deficiency DOID:5813 OMIM:613179
 J:39328




Genotype
MGI:3778897
hm2
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 (29 available)
♀ 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




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory