Phenotypes Associated with This Genotype

Genotype
MGI:3701826

• Allelic Composition: Recql^tm1Pjb/Recql^tm1Pjb
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

cellular

abnormal chromosome morphology ( J:118989 )

• mutant MEFs show a much higher frequency of chromosomal aberrations compared to wild-type cells, with increased incidence of fragmented chromosomes, broken or fragmented sister chromosomes compared to none in wild-type cells

• other abnormalities are increased incidence of spontaneous random chromosomal translocations, and a ring chromosome possibly resulting from a breakage and fusion event

aneuploidy ( J:118989 )

• 73% of mutant metaphase MEFs differ from normal diploid chromosome number of 40, while wild-type MEFs have 32% frequency of aneuploidy

elevated level of mitotic sister chromatid exchange ( J:118989 )

• mutant MEFs have a 4.5-fold higher frequency of spontaneous sister chromatid exchange compared to wild-type

decreased fibroblast proliferation ( J:118989 )

• MEFs treated with ionizing radiation show less proliferation than wild-type MEFs

spontaneous chromosome breakage ( J:118989 )

• MEFs from mutants show increased frequency of spontaneous double-strand DNA breaks (DSB); ~50% of MEFs show gamma H2AX foci, indicating an elevated load of unrepaired DSBs