Phenotypes associated with this allele

• Allele Symbol: Ercc4^tm1Fwa
• Allele Name: targeted mutation 1, Frederick W Alt
• Allele ID: MGI:3028660
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ercc4^tm1Fwa/Ercc4^tm1Fwa	involves: 129S6/SvEvTac	MGI:3028691
hm2	Ercc4^tm1Fwa/Ercc4^tm1Fwa	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:6258422
cx3	Ercc4^tm1Fwa/Ercc4^tm1Fwa Tg(KRT5-Terf2)PMBlas/Y	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:6258423

Genotype
MGI:3028691

hm1

• 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

impaired DNA repair ( J:87684 )

• mice exhibit DNA repair defects

homeostasis/metabolism

impaired 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

Genotype
MGI:6258422

hm2

• Allelic Composition: Ercc4^tm1Fwa/Ercc4^tm1Fwa
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

cellular

cellular phenotype ( J:102653 )

N • mice exhibit normal telomere length with no formation of gamma-H2AX DNA damage foci detected in tail skin, similar to wild-type controls

Genotype
MGI:6258423

cx3

• Allelic Composition: Ercc4^tm1Fwa/Ercc4^tm1Fwa; Tg(KRT5-Terf2)PMBlas/Y
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

cellular

abnormal telomere morphology ( J:102653 )

• double mutant mice show a significant rescue of telomere length in tail skin and of end-to-end fusions associated with critically short telomeres relative to single Tg(KRT5-Terf2)PMBlas mutant mice

• a significantly lower % of keratinocyte nuclei contain gamma-H2AX-positive foci in tail skin relative to single Tg(KRT5-Terf2)PMBlas mutant mice, indicating a partial rescue of DNA damage associated with short telomeres