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Phenotypes Associated with This Genotype
Genotype
MGI:3028691
Allelic
Composition
Ercc4tm1Fwa/Ercc4tm1Fwa
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc4tm1Fwa mutation (0 available); any Ercc4 mutation (51 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all mice die approximately 3 weeks after birth

growth/size/body
• 73% decrease in body weight relative to wild-type and heterozygous littermates at 15 days of age
• pups appear to lag behind their littermates in growth

liver/biliary system
• liver contains abnormal cells with enlarged nuclei

cellular
N
• no defect in class switch recombination is observed
• mice exhibit DNA repair defects
• after mitomycin C treatment, mouse embryonic fibroblasts (MEFs) isolated from E13.5 embryos show markedly reduced survival relative to wild-type or heterozygous MEFs
• after irradiation with UVC, MEFs isolated from E13.5 embryos show markedly reduced survival relative to wild-type or heterozygous MEFs

homeostasis/metabolism
• 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


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
01/08/2019
MGI 6.13
The Jackson Laboratory