Phenotypes Associated with This Genotype

Genotype
MGI:6195061

• Allelic Composition: Pml^tm1.1Ews/Pml^tm1.1Ews
• Genetic Background: FVB.129P2-Pml^tm1.1Ews

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

cellular

abnormal PML bodies ( J:262172 )

• nuclear body dispersion/disruption

elevated level of mitotic sister chromatid exchange ( J:262172 )

• MEFs exhibit a higher number of spontaneous sister chromatid exchange

increased cellular sensitivity to ionizing radiation induced cell death ( J:262172 )

• MEFs show a greater number of chromosome aberrations in response to ionizing radiation

impaired double-strand DNA break repair ( J:262172 )

• MEFs exhibit defects in DNA double strand break repair, with a defect in nonhomologous end-joining (NHEJ) and a reduction in the efficiency of homologous recombination

hematopoietic system

increased hematopoietic stem cell number ( J:262172 )

• the number of LSK hematopoietic stem and progenitor cells is increased to a greater extent than in Pml^tm1Ppp homozygotes

• acceleration of cell cycle progression in LSK hematopoietic stem cells

homeostasis/metabolism

increased cellular sensitivity to ionizing radiation induced cell death ( J:262172 )

• MEFs show a greater number of chromosome aberrations in response to ionizing radiation

impaired double-strand DNA break repair ( J:262172 )

• MEFs exhibit defects in DNA double strand break repair, with a defect in nonhomologous end-joining (NHEJ) and a reduction in the efficiency of homologous recombination

neoplasm

neoplasm ( J:262172 )

N • Background Sensitivity: mice are developmentally normal and do not die of spontaneous leukemias or tumors unlike mice on a 129 background that develop lymphoma