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Phenotypes Associated with This Genotype
Genotype
MGI:3778902
Allelic
Composition
Pnpg/Pnpg
Genetic
Background
involves: C57BL/6 * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pnpg mutation (0 available); any Pnp mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: reduced survival to birth but some do survive when DBA/2J is part of the background (J:523)
• Background Sensitivity: reduced survival to birth but some do survive when DBA/2J is part of the background (J:523)

homeostasis/metabolism
• reduced purine nucleoside phosphorylase activity in erythrocytes relative to controls (J:522)
• reduced purine nucleoside phosphorylase activity in erythrocytes relative to controls (J:522)

immune system
• marked and progressive decline in cellularity observable by 2-3 months of age (J:39328)
• marked and progressive decline in cellularity observable by 2-3 months of age (J:39328)
• 57% reduction (J:39328)
• thymus levels only 14% of control mice (J:39328)
• 57% reduction (J:39328)
• thymus levels only 14% of control mice (J:39328)
• numbers in spleen only 41% of control numbers (J:39328)
• numbers in spleen only 41% of control numbers (J:39328)
• spleen leukocyte response to conA and IL-2 is impaired, being only 18-20% of normal; when adjusted for the reduction in Thy-1+ cells, overall response to conA and IL-2 is 34-38% compared to controls (J:39328)
• spleen leukocyte response to conA and IL-2 is impaired, being only 18-20% of normal; when adjusted for the reduction in Thy-1+ cells, overall response to conA and IL-2 is 34-38% compared to controls (J:39328)

hematopoietic system
• marked and progressive decline in cellularity observable by 2-3 months of age (J:39328)
• marked and progressive decline in cellularity observable by 2-3 months of age (J:39328)
• 57% reduction (J:39328)
• thymus levels only 14% of control mice (J:39328)
• 57% reduction (J:39328)
• thymus levels only 14% of control mice (J:39328)
• numbers in spleen only 41% of control numbers (J:39328)
• numbers in spleen only 41% of control numbers (J:39328)
• spleen leukocyte response to conA and IL-2 is impaired, being only 18-20% of normal; when adjusted for the reduction in Thy-1+ cells, overall response to conA and IL-2 is 34-38% compared to controls (J:39328)
• spleen leukocyte response to conA and IL-2 is impaired, being only 18-20% of normal; when adjusted for the reduction in Thy-1+ cells, overall response to conA and IL-2 is 34-38% compared to controls (J:39328)

endocrine/exocrine glands
• marked and progressive decline in cellularity observable by 2-3 months of age (J:39328)
• marked and progressive decline in cellularity observable by 2-3 months of age (J:39328)

Mouse Models of Human Disease
OMIM ID Ref(s)
Purine Nucleoside Phosphorylase Deficiency 613179 J:39328


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
02/02/2016
MGI 6.02
The Jackson Laboratory