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Phenotypes Associated with This Genotype
Genotype
MGI:3575579
Allelic
Composition
Recql4tm1Glu/Recql4tm1Glu
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Recql4tm1Glu mutation (0 available); any Recql4 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 16% died prior to 24 hours of age (J:97101)
• 16% died prior to 24 hours of age (J:97101)
• 5 out 100 mutants died of cancer prior to 20 months of age compared to none of the controls (J:97101)
• 5 out 100 mutants died of cancer prior to 20 months of age compared to none of the controls (J:97101)

tumorigenesis
• 3 out of 100 mutants developed lymphomas compared to none in controls (J:97101)
• 3 out of 100 mutants developed lymphomas compared to none in controls (J:97101)
• 2 out of 100 mutants developed osteosarcoma compared to none in controls (J:97101)
• 2 out of 100 mutants developed osteosarcoma compared to none in controls (J:97101)

pigmentation
• by 12 months of age, developed a hypo-/hyper-pigmented skin phenotype on the tail (J:97101)
• by 12 months of age, developed a hypo-/hyper-pigmented skin phenotype on the tail (J:97101)

cellular
• all cell types examined, including bone marrow, B- and T-cells and MEFs, displayed higher rates of aneuploidy and increased frequency of premature centromere separation, in which sister-chromatids become precociously separated prior to the metaphase/anaphase transition, compared to wildtype (J:97101)
• 24% of MEFs were hyperploid and MEFs had a significantly higher frequency of spontaneous micronuclei (J:97101)
• all cell types examined, including bone marrow, B- and T-cells and MEFs, displayed higher rates of aneuploidy and increased frequency of premature centromere separation, in which sister-chromatids become precociously separated prior to the metaphase/anaphase transition, compared to wildtype (J:97101)
• 24% of MEFs were hyperploid and MEFs had a significantly higher frequency of spontaneous micronuclei (J:97101)

craniofacial
• all mutants exhibited palate abnormalities with severity ranging from cleft palate to subtle patterning defects (J:97101)
• all mutants exhibited palate abnormalities with severity ranging from cleft palate to subtle patterning defects (J:97101)

limbs/digits/tail
• by 12 months of age, developed a hypo-/hyper-pigmented skin phenotype on the tail (J:97101)
• by 12 months of age, developed a hypo-/hyper-pigmented skin phenotype on the tail (J:97101)
• most of the 5.7% of mutants that had skeletal defects of the limbs at birth had preaxial polydactyly of the hindlimbs (J:97101)
• most of the 5.7% of mutants that had skeletal defects of the limbs at birth had preaxial polydactyly of the hindlimbs (J:97101)
• some mutants exhibit a truncated forelimb (J:97101)
• some mutants exhibit a truncated forelimb (J:97101)
• 5.7% of mutants had skeletal defects of the limbs at birth (J:97101)
• 5.7% of mutants had skeletal defects of the limbs at birth (J:97101)
• some mutants exhibit a bifurcated digit of the hindlimb (J:97101)
• some mutants exhibit a bifurcated digit of the hindlimb (J:97101)

skeleton
• 5.7% of mutants had skeletal defects of the limbs at birth (J:97101)
• 5.7% of mutants had skeletal defects of the limbs at birth (J:97101)
• some mutants exhibit a bifurcated digit of the hindlimb (J:97101)
• some mutants exhibit a bifurcated digit of the hindlimb (J:97101)

digestive/alimentary system
• all mutants exhibited palate abnormalities with severity ranging from cleft palate to subtle patterning defects (J:97101)
• all mutants exhibited palate abnormalities with severity ranging from cleft palate to subtle patterning defects (J:97101)

integument
• by 12 months of age, developed a hypo-/hyper-pigmented skin phenotype on the tail (J:97101)
• by 12 months of age, developed a hypo-/hyper-pigmented skin phenotype on the tail (J:97101)

growth/size/body
• all mutants exhibited palate abnormalities with severity ranging from cleft palate to subtle patterning defects (J:97101)
• all mutants exhibited palate abnormalities with severity ranging from cleft palate to subtle patterning defects (J:97101)

Mouse Models of Human Disease
OMIM ID Ref(s)
Rothmund-Thomson Syndrome; RTS 268400 J:97101


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory