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Phenotypes Associated with This Genotype
Genotype
MGI:3778898
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

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
11/12/2024
MGI 6.24 		The Jackson Laboratory