Phenotypes associated with this allele

• Allele Symbol: Pnp^tm1Cmr
• Allele Name: targeted mutation 1, Chaim M Roifman
• Allele ID: MGI:2386195
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pnp^tm1Cmr/Pnp^tm1Cmr	involves: 129	MGI:3845813

Genotype
MGI:3845813

hm1

• Allelic Composition: Pnp^tm1Cmr/Pnp^tm1Cmr
• Genetic Background: involves: 129

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

cellular

increased cellular sensitivity to gamma-irradiation ( J:62870 )

• thymocytes are more sensitive to gamma irradiation than controls

• 50% of mutant thymocytes are apoptotic after 200 cGy compared to 1000 cGy needed to induce the same percentage in wild-type thymocytes

• splenic T cells are also more sensitive to gamma irradiation

increased thymocyte apoptosis ( J:62870 )

• thymocyte apoptosis is increased two-fold

• highest rates of apoptosis occurs to double-positive thymocytes followed by single-positive thymocytes and is virtually absent in double negative thymocytes

abnormal DNA repair ( J:62870 )

• mitochondrial DNA repair is deficient in thymocytes

abnormal mitochondrial physiology ( J:62870 )

• mitochondrial DNA repair is deficient in thymocytes

homeostasis/metabolism

abnormal DNA repair ( J:62870 )

• mitochondrial DNA repair is deficient in thymocytes

abnormal urine nucleoside level ( J:62870 )

• urine contains large concentrations of purine nucleosides (inosine, deoxyinosine, guanosine, and deoxyguanosine)

abnormal enzyme/coenzyme activity ( J:62870 )

• deoxyguanosine kinase levels are reduced 20-fold in thymocytes leading to reduced levels of intracellular GTP

decreased purine-nucleoside phosphorylase activity ( J:62870 )

• mice lack purine nucleoside phosphorylase activity

immune system

increased thymocyte apoptosis ( J:62870 )

• thymocyte apoptosis is increased two-fold

• highest rates of apoptosis occurs to double-positive thymocytes followed by single-positive thymocytes and is virtually absent in double negative thymocytes

increased double-negative T cell number ( J:62870 )

• there is a 2-fold increase in the frequency of double negative thymocytes

decreased double-positive T cell number ( J:62870 )

• double positive thymocytes are decreased by about half

abnormal myelopoiesis ( J:62870 )

• increased numbers of CD11⁺ myeloid cells are found in the spleen and lymph node

increased pre-B cell number ( J:62870 )

• spleen and lymph nodes have an increase in frequency of immature CD19^-IgM^- pre-B cells

decreased CD4-positive, alpha-beta T cell number ( J:62870 )

• CD4⁺ T cell numbers are reduced in the periphery

decreased CD8-positive, alpha-beta T cell number ( J:62870 )

• CD8⁺ T cell numbers are reduced in the periphery

decreased single-positive T cell number ( J:62870 )

• single-positive thymocytes are decreased in the thymus

decreased cytotoxic T cell cytolysis ( J:62870 )

• CD8⁺ T cells are unable to kill stimulator cells with allogenic MHC in the absence of IL-2

hematopoietic system

increased thymocyte apoptosis ( J:62870 )

• thymocyte apoptosis is increased two-fold

• highest rates of apoptosis occurs to double-positive thymocytes followed by single-positive thymocytes and is virtually absent in double negative thymocytes

increased double-negative T cell number ( J:62870 )

• there is a 2-fold increase in the frequency of double negative thymocytes

decreased double-positive T cell number ( J:62870 )

• double positive thymocytes are decreased by about half

abnormal myelopoiesis ( J:62870 )

• increased numbers of CD11⁺ myeloid cells are found in the spleen and lymph node

increased pre-B cell number ( J:62870 )

• spleen and lymph nodes have an increase in frequency of immature CD19^-IgM^- pre-B cells

decreased CD4-positive, alpha-beta T cell number ( J:62870 )

• CD4⁺ T cell numbers are reduced in the periphery

decreased CD8-positive, alpha-beta T cell number ( J:62870 )

• CD8⁺ T cell numbers are reduced in the periphery

decreased single-positive T cell number ( J:62870 )

• single-positive thymocytes are decreased in the thymus

decreased cytotoxic T cell cytolysis ( J:62870 )

• CD8⁺ T cells are unable to kill stimulator cells with allogenic MHC in the absence of IL-2

renal/urinary system

abnormal urine nucleoside level ( J:62870 )

• urine contains large concentrations of purine nucleosides (inosine, deoxyinosine, guanosine, and deoxyguanosine)

endocrine/exocrine glands

increased thymocyte apoptosis ( J:62870 )

• thymocyte apoptosis is increased two-fold

• highest rates of apoptosis occurs to double-positive thymocytes followed by single-positive thymocytes and is virtually absent in double negative thymocytes