Phenotypes Associated with This Genotype

Genotype
MGI:3028691

• Allelic Composition: Ercc4^tm1Fwa/Ercc4^tm1Fwa
• Genetic Background: involves: 129S6/SvEvTac

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

mortality/aging

lethality at weaning, complete penetrance ( J:87684 )

• all mice die approximately 3 weeks after birth

growth/size/body

decreased body weight ( J:87684 )

• 73% decrease in body weight relative to wild-type and heterozygous littermates at 15 days of age

postnatal growth retardation ( J:87684 )

• pups appear to lag behind their littermates in growth

liver/biliary system

abnormal liver morphology ( J:87684 )

• liver contains abnormal cells with enlarged nuclei

increased hepatocyte karyomegaly ( J:87684 )

cellular

cellular phenotype ( J:87684 )

N • no defect in class switch recombination is observed

increased hepatocyte karyomegaly ( J:87684 )

increased cellular sensitivity to alkylating agents ( J:87684 )

• after mitomycin C treatment, mouse embryonic fibroblasts (MEFs) isolated from E13.5 embryos show markedly reduced survival relative to wild-type or heterozygous MEFs

increased cellular sensitivity to ultraviolet irradiation ( J:87684 )

• after irradiation with UVC, MEFs isolated from E13.5 embryos show markedly reduced survival relative to wild-type or heterozygous MEFs

abnormal DNA repair ( J:87684 )

• mice exhibit DNA repair defects

homeostasis/metabolism

abnormal DNA repair ( J:87684 )

• mice exhibit DNA repair defects

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
xeroderma pigmentosum group F		DOID:0110848	OMIM:278760	J:87684