Phenotypes Associated with This Genotype

Genotype
MGI:3778900

• Allelic Composition: Pnp^f/Pnp^f
• Genetic Background: C57BL/6J-Pnp^f

• ♀: 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 2-3 months of age

abnormal leukocyte cell number ( J:39328 )

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

• 16% reduction

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

• numbers in spleen only 57% of control numbers

abnormal leukocyte physiology ( J:39328 )

• spleen leukocyte response to conA and IL-2 is impaired, being only 17-28% of normal; when adjusted for reduction in Thy-1+ cells, overall response to conA and IL-2 is 35-57% 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 )

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

• 16% reduction

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

• numbers in spleen only 57% of control numbers

abnormal leukocyte physiology ( J:39328 )

• spleen leukocyte response to conA and IL-2 is impaired, being only 17-28% of normal; when adjusted for reduction in Thy-1+ cells, overall response to conA and IL-2 is 35-57% 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