Phenotypes Associated with This Genotype

Genotype
MGI:3778902

• Allelic Composition: Pnp^g/Pnp^g
• Genetic Background: involves: C57BL/6 * DBA/2J

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:523 )

• Background Sensitivity: reduced survival to birth but some do survive when DBA/2J is part of the background

homeostasis/metabolism

decreased purine-nucleoside phosphorylase activity ( J:522 )

• reduced purine nucleoside phosphorylase activity in erythrocytes relative to controls

immune system

thymus hypoplasia ( J:39328 )

• marked and progressive decline in cellularity observable by 2-3 months of age

abnormal leukocyte cell number ( J:39328 )

increased double-negative T cell number ( J:39328 )

decreased double-positive T cell number ( J:39328 )

• 57% reduction

• thymus levels only 14% of control mice

decreased CD8-positive, alpha-beta T cell number ( J:39328 )

• numbers in spleen only 41% of control numbers

abnormal leukocyte physiology ( 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

hematopoietic system

thymus hypoplasia ( J:39328 )

• marked and progressive decline in cellularity observable by 2-3 months of age

abnormal leukocyte cell number ( J:39328 )

increased double-negative T cell number ( J:39328 )

decreased double-positive T cell number ( J:39328 )

• 57% reduction

• thymus levels only 14% of control mice

decreased CD8-positive, alpha-beta T cell number ( J:39328 )

• numbers in spleen only 41% of control numbers

abnormal leukocyte physiology ( 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

endocrine/exocrine glands

thymus hypoplasia ( J:39328 )

• marked and progressive decline in cellularity observable by 2-3 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