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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Recqltm1Pjb
targeted mutation 1, Perry J Blackshear
MGI:3701259
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Recqltm1Pjb/Recqltm1Pjb involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3701826


Genotype
MGI:3701826
hm1
Allelic
Composition
Recqltm1Pjb/Recqltm1Pjb
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Recqltm1Pjb mutation (0 available); any Recql mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• 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
• 73% of mutant metaphase MEFs differ from normal diploid chromosome number of 40, while wild-type MEFs have 32% frequency of aneuploidy
• mutant MEFs have a 4.5-fold higher frequency of spontaneous sister chromatid exchange compared to wild-type
• MEFs treated with ionizing radiation show less proliferation than wild-type MEFs
• 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





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory