Phenotypes Associated with This Genotype

Genotype
MGI:2450430

• Allelic Composition: Rad50^tm2Jpt/Rad50^tm2Jpt
• Genetic Background: either: (involves: 129S6/SvEvTac * 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6)

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

mortality/aging

premature death ( J:78820 )

• mean age of death is 2.6 months +/- 1.8 months

lethality throughout fetal growth and development, incomplete penetrance ( J:78820 )

• partial embryonic lethality at day E14-E16

neoplasm

increased T cell derived lymphoma incidence ( J:78820 )

• 20% of animals displayed metastatic thymic lymphomas at 4-7 months of age

increased leukemia incidence ( J:78820 )

• 1 animal displayed myeloid leukemia

growth/size/body

decreased body weight ( J:78820 )

• weight of mutant mice was 60% of controls

spleen hyperplasia ( J:78820 )

• 4 animals displayed splenic hyperplasia

hematopoietic system

abnormal thymus morphology ( J:78820 )

• abnormal thymus architecture

increased late pro-B cell number ( J:78820 )

• at 1 week of age mutant mice displayed a 2-3 fold increase in pro B cells

anemia ( J:78820 )

• by 4-8 weeks of age animals displayed gray and wasted appearance

impaired hematopoiesis ( J:78820 )

• at 4 weeks of age mutant mice displayed severe depletion of lymphocytes, macrophages, red blood cells, and platelets

abnormal bone marrow cell morphology/development ( J:78820 )

absent bone marrow cell ( J:78820 )

• bone marrow devoid of hematopoietic cells and composed largely of adipocytes

decreased B cell number ( J:78820 )

• splenic B cell count at 4.8%-12% of wild-type

decreased immature B cell number ( J:78820 )

• at 1 week of age mutant mice displayed a 1.5-3 fold reduction in immature B cell population

decreased pre-B cell number ( J:78820 )

• at 1 week of age mutant mice displayed a 1.5-3 fold reduction in pre B cell population

decreased T cell number ( J:78820 )

• splenic T cell count at 7%-49% of wild-type

increased macrophage cell number ( J:78820 )

• at 1 week of age mutant mice displayed a 2-3 fold increase in macrophages

abnormal spleen morphology ( J:78820 )

• abnormal spleen architecture

spleen hyperplasia ( J:78820 )

• 4 animals displayed splenic hyperplasia

immune system

abnormal immune system cell morphology ( J:78820 )

increased late pro-B cell number ( J:78820 )

• at 1 week of age mutant mice displayed a 2-3 fold increase in pro B cells

decreased B cell number ( J:78820 )

• splenic B cell count at 4.8%-12% of wild-type

decreased immature B cell number ( J:78820 )

• at 1 week of age mutant mice displayed a 1.5-3 fold reduction in immature B cell population

decreased pre-B cell number ( J:78820 )

• at 1 week of age mutant mice displayed a 1.5-3 fold reduction in pre B cell population

decreased T cell number ( J:78820 )

• splenic T cell count at 7%-49% of wild-type

increased macrophage cell number ( J:78820 )

• at 1 week of age mutant mice displayed a 2-3 fold increase in macrophages

abnormal immune system organ morphology ( J:78820 )

abnormal thymus morphology ( J:78820 )

• abnormal thymus architecture

abnormal spleen morphology ( J:78820 )

• abnormal spleen architecture

spleen hyperplasia ( J:78820 )

• 4 animals displayed splenic hyperplasia

endocrine/exocrine glands

abnormal thymus morphology ( J:78820 )

• abnormal thymus architecture

increased T cell derived lymphoma incidence ( J:78820 )

• 20% of animals displayed metastatic thymic lymphomas at 4-7 months of age