Phenotypes associated with this allele

• Allele Symbol: Pnp^f
• Allele Name: NP-1F
• Allele ID: MGI:3777968
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pnp^f/Pnp^f	C57BL/6J-Pnp^f	MGI:3778900
hm2	Pnp^f/Pnp^f	involves: C3H/HeHa * C57BL/6J	MGI:3778899

Genotype
MGI:3778900

hm1

• 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

Genotype
MGI:3778899

hm2

• Allelic Composition: Pnp^f/Pnp^f
• Genetic Background: involves: C3H/HeHa * C57BL/6J

homeostasis/metabolism

abnormal urine nucleotide level ( J:23354 )

• excrete substantially more inosine, guanosine and deoxyribonucleotides in urine than do controls

decreased purine-nucleoside phosphorylase activity ( J:23354 )

• reduced purine nucleoside phosphorylase activity in erythrocytes to 5% of controls

• reduced PNP activity to 0.1% of control levels in liver and kidney

renal/urinary system

abnormal urine nucleotide level ( J:23354 )

• excrete substantially more inosine, guanosine and deoxyribonucleotides in urine than do controls

immune system

increased double-negative T cell number ( J:522 )

• 10 fold increase of double negative T cells to 40% of total thymocytes

hematopoietic system

increased double-negative T cell number ( J:522 )

• 10 fold increase of double negative T cells to 40% of total thymocytes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
purine nucleoside phosphorylase deficiency		DOID:5813	OMIM:613179	J:23354