Phenotypes associated with this allele

• Allele Symbol: Recql4^tm1Glu
• Allele Name: targeted mutation 1, Guangbin Luo
• Allele ID: MGI:3045113
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Recql4^tm1Glu/Recql4^tm1Glu	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3575579
cx2	Apc^Min/Apc^+ Recql4^tm1Glu/Recql4^tm1Glu	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3575580

Genotype
MGI:3575579

hm1

• 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

Genotype
MGI:3575580

cx2

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

neoplasm

increased tumor growth/size ( J:97101 )

• the average maximal diameter of macroadenomas was larger than in double heterozygous controls

increased adenoma incidence ( J:97101 )

• at 120 days of age, exhibited a 2-fold increase in the multiplicity of macroadenomas along the entire GI tract compared to double heterozygous mutant controls, however no difference in the mean or maximal lifespan compared to controls

increased colon adenoma incidence ( J:97101 )

• mutants always developed tumors in the large intestine, a site that is inconsistently affected in double heterozygous controls

digestive/alimentary system

increased colon adenoma incidence ( J:97101 )

• mutants always developed tumors in the large intestine, a site that is inconsistently affected in double heterozygous controls

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