Mouse Genome Informatics
hm
    Recql4tm1Glu/Recql4tm1Glu
involves: 129S7/SvEvBrd * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• 16% died prior to 24 hours of age
• 5 out 100 mutants died of cancer prior to 20 months of age compared to none of the controls

tumorigenesis
• 3 out of 100 mutants developed lymphomas compared to none in controls
• 2 out of 100 mutants developed osteosarcoma compared to none in controls

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

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
• 24% of MEFs were hyperploid and MEFs had a significantly higher frequency of spontaneous micronuclei

craniofacial
• all mutants exhibited palate abnormalities with severity ranging from cleft palate to subtle patterning defects

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

skeleton
• 5.7% of mutants had skeletal defects of the limbs at birth
• some mutants exhibit a bifurcated digit of the hindlimb

digestive/alimentary system
• all mutants exhibited palate abnormalities with severity ranging from cleft palate to subtle patterning defects

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

growth/size
• all mutants exhibited palate abnormalities with severity ranging from cleft palate to subtle patterning defects

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