Phenotypes Associated with This Genotype

Genotype
MGI:3575579

• Allelic Composition: Recql4^tm1Glu/Recql4^tm1Glu
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

mortality/aging

premature death ( J:97101 )

• 5 out 100 mutants died of cancer prior to 20 months of age compared to none of the controls

neonatal lethality, incomplete penetrance ( J:97101 )

• 16% died prior to 24 hours of age

neoplasm

increased lymphoma incidence ( J:97101 )

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

increased sarcoma incidence ( J:97101 )

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

pigmentation

abnormal tail pigmentation ( J:97101 )

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

cellular

chromosome breakage ( 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

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

craniofacial

cleft palate ( J:97101 )

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

limbs/digits/tail

abnormal tail pigmentation ( J:97101 )

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

preaxial polydactyly ( J:97101 )

• most of the 5.7% of mutants that had skeletal defects of the limbs at birth had preaxial polydactyly of the hindlimbs

short forelimb ( J:97101 )

• some mutants exhibit a truncated forelimb

abnormal limb bone morphology ( J:97101 )

• 5.7% of mutants had skeletal defects of the limbs at birth

polyphalangy ( J:97101 )

• some mutants exhibit a bifurcated digit of the hindlimb

skeleton

abnormal limb bone morphology ( J:97101 )

• 5.7% of mutants had skeletal defects of the limbs at birth

polyphalangy ( J:97101 )

• some mutants exhibit a bifurcated digit of the hindlimb

digestive/alimentary system

cleft palate ( J:97101 )

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

integument

abnormal tail pigmentation ( J:97101 )

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

growth/size/body

cleft palate ( J:97101 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rothmund-Thomson syndrome		DOID:2732	OMIM:268400	J:97101