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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Xpctm1Ecf
targeted mutation 1, Errol C Friedberg
MGI:1859840
Summary 11 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Xpctm1Ecf/Xpctm1Ecf involves: 129 MGI:2652242
hm2
Xpctm1Ecf/Xpctm1Ecf involves: 129 * C57BL/6 MGI:3719290
hm3
Xpctm1Ecf/Xpctm1Ecf involves: 129 * SKH1 MGI:3710351
ht4
Xpctm1Ecf/Xpc+ involves: 129 * SKH1 MGI:3710352
cx5
Ercc3tm1.1Gima/Ercc3tm1.1Gima
Xpctm1Ecf/Xpctm1Ecf
either: (involves: 129/Sv * 129P2/OlaHsd * C57BL/6) or (involves: 129/Sv * 129P2/OlaHsd * FVB/N) MGI:4410312
cx6
Gadd45atm1Ajf/Gadd45atm1Ajf
Xpctm1Ecf/Xpctm1Ecf
either: (involves: 129/Sv * 129P2/OlaHsd * C57BL/6) or (involves: 129/Sv * 129X1/SvJ * C57BL/6) MGI:3719353
cx7
Apex1tm1Ecf/Apex1+
Xpctm1Ecf/Xpctm1Ecf
involves: 129 MGI:2652241
cx8
Ercc6tm1Gvh/Ercc6tm1Gvh
Xpctm1Ecf/Xpctm1Ecf
involves: 129 * 129P2/OlaHsd * C57BL/6J MGI:3767852
cx9
Ercc8tm1Jhjh/Ercc8tm1Jhjh
Xpctm1Ecf/Xpctm1Ecf
involves: 129P2/OlaHsd * C57BL/6J MGI:2663264
cx10
Ercc8tm1Jhjh/Ercc8tm1Jhjh
Xpctm1Ecf/Xpc+
involves: 129P2/OlaHsd * C57BL/6J MGI:2663268
cx11
Msh2tm1Rak/Msh2tm1Rak
Xpctm1Ecf/Xpctm1Ecf
involves: 129P2/OlaHsd * SKH1 MGI:4355517


Genotype
MGI:2652242
hm1
Allelic
Composition
Xpctm1Ecf/Xpctm1Ecf
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Xpctm1Ecf mutation (1 available); any Xpc mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• murine embryonic fibroblasts are more sensitive to UV radiation than wild-type cells
• increased sensitivity to oxidative stress




Genotype
MGI:3719290
hm2
Allelic
Composition
Xpctm1Ecf/Xpctm1Ecf
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Xpctm1Ecf mutation (1 available); any Xpc mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Lungs of Xpctm1Ecf/Xpctm1Ecf mice show a range of lesions

neoplasm
• lung tumors are seen as early as 6 months of age and by 16-17 months of age, all mutants develop tumors
• incidence and multiplicity of lung tumors increases with age
• most lung tumors are classified as adenomas, with only a few progressing to malignant carcinomas
• a few lung tumors progress to malignant carcinomas

respiratory system
• lung tumors are seen as early as 6 months of age and by 16-17 months of age, all mutants develop tumors
• incidence and multiplicity of lung tumors increases with age
• most lung tumors are classified as adenomas, with only a few progressing to malignant carcinomas
• a few lung tumors progress to malignant carcinomas

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
lung cancer DOID:1324 OMIM:211980
OMIM:608935
OMIM:612571
OMIM:612593
OMIM:614210
J:101421




Genotype
MGI:3710351
hm3
Allelic
Composition
Xpctm1Ecf/Xpctm1Ecf
Genetic
Background
involves: 129 * SKH1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Xpctm1Ecf mutation (1 available); any Xpc mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
• cyclobutane pyrimidine dimers are observed in hair follicles after treatment with a total UV dose of 1.0 kJ/m2
• basal cells exhibit hypoplasia after a total UV dose of 1.0 kJ/m2 despite the dose being much below the minimal erythema dose
• cyclobutane pyrimidine dimers are observed in cells within the dermis at a reduced level (4.7% compared to 12% in wild-type mice) after treatment with a total UV dose of 1.0 kJ/m2
• pyridine pirimidone photoproducts accumulate in about 1.8% of epidermal basal cells after treatment with a total UV dose of 1.0 kJ/m2 and no increase in photoproducts with increased exposure




Genotype
MGI:3710352
ht4
Allelic
Composition
Xpctm1Ecf/Xpc+
Genetic
Background
involves: 129 * SKH1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Xpctm1Ecf mutation (1 available); any Xpc mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
• basal cells exhibit reduced levels of cyclobutane pyrimidine dimers (8.7% compared to 12% in wild-type mice) after a total UV dose of 1.0 kJ/m2
• however, no pyridine pirimidone photoproducts accumulate




Genotype
MGI:4410312
cx5
Allelic
Composition
Ercc3tm1.1Gima/Ercc3tm1.1Gima
Xpctm1Ecf/Xpctm1Ecf
Genetic
Background
either: (involves: 129/Sv * 129P2/OlaHsd * C57BL/6) or (involves: 129/Sv * 129P2/OlaHsd * FVB/N)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc3tm1.1Gima mutation (0 available); any Ercc3 mutation (31 available)
Xpctm1Ecf mutation (1 available); any Xpc mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• UV-treated dermal fibroblasts exhibit reduced survival compared with similarly treated wild-type cells




Genotype
MGI:3719353
cx6
Allelic
Composition
Gadd45atm1Ajf/Gadd45atm1Ajf
Xpctm1Ecf/Xpctm1Ecf
Genetic
Background
either: (involves: 129/Sv * 129P2/OlaHsd * C57BL/6) or (involves: 129/Sv * 129X1/SvJ * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gadd45atm1Ajf mutation (2 available); any Gadd45a mutation (15 available)
Xpctm1Ecf mutation (1 available); any Xpc mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• at 24 months of age, only 28% of mutants are alive compared to 43% of wild-type

neoplasm
• some mutants exhibit malignant adenocarcinoma with metastasis to adjacent lymph nodes
• 100% of mutants develop lung tumors by 24 months of age; display a full range of lung lesions, ranging from mild atypia and hyperplasia to malignant adenocarcinoma with metastasis to adjacent lymph nodes
• majority of mutants develop lung adenocarcinomas coincident with adenomas

respiratory system
• 100% of mutants develop lung tumors by 24 months of age; display a full range of lung lesions, ranging from mild atypia and hyperplasia to malignant adenocarcinoma with metastasis to adjacent lymph nodes
• majority of mutants develop lung adenocarcinomas coincident with adenomas

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
lung cancer DOID:1324 OMIM:211980
OMIM:608935
OMIM:612571
OMIM:612593
OMIM:614210
J:101421




Genotype
MGI:2652241
cx7
Allelic
Composition
Apex1tm1Ecf/Apex1+
Xpctm1Ecf/Xpctm1Ecf
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apex1tm1Ecf mutation (0 available); any Apex1 mutation (16 available)
Xpctm1Ecf mutation (1 available); any Xpc mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• 16% developed microscopic tumors

cellular
• increased sensitivity to oxidative stress




Genotype
MGI:3767852
cx8
Allelic
Composition
Ercc6tm1Gvh/Ercc6tm1Gvh
Xpctm1Ecf/Xpctm1Ecf
Genetic
Background
involves: 129 * 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc6tm1Gvh mutation (1 available); any Ercc6 mutation (78 available)
Xpctm1Ecf mutation (1 available); any Xpc mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• number of double mutant pups is about 3-fold below the expected numbers, however normal numbers are seen at E18.5, indicating some lethality during or shortly after birth

growth/size/body
• develop progressive cachexia in the third week of life

homeostasis/metabolism
• analysis of UV-induced repair synthesis and RNA synthesis recovery show complete inactivation of nucleotide excision repair (NER)

cellular
• analysis of UV-induced repair synthesis and RNA synthesis recovery show complete inactivation of nucleotide excision repair (NER)




Genotype
MGI:2663264
cx9
Allelic
Composition
Ercc8tm1Jhjh/Ercc8tm1Jhjh
Xpctm1Ecf/Xpctm1Ecf
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc8tm1Jhjh mutation (0 available); any Ercc8 mutation (31 available)
Xpctm1Ecf mutation (1 available); any Xpc mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• animals within a month of birth

growth/size/body
• severe runting




Genotype
MGI:2663268
cx10
Allelic
Composition
Ercc8tm1Jhjh/Ercc8tm1Jhjh
Xpctm1Ecf/Xpc+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc8tm1Jhjh mutation (0 available); any Ercc8 mutation (31 available)
Xpctm1Ecf mutation (1 available); any Xpc mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• mutants develop skin tumors after chronic exposure to UVB radiation at an accelerated rate compared to single Ercc8 homozygotes
• mutants exposed to UVB radiation also develop eye tumors, most being hemangiosarcomas




Genotype
MGI:4355517
cx11
Allelic
Composition
Msh2tm1Rak/Msh2tm1Rak
Xpctm1Ecf/Xpctm1Ecf
Genetic
Background
involves: 129P2/OlaHsd * SKH1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msh2tm1Rak mutation (1 available); any Msh2 mutation (95 available)
Xpctm1Ecf mutation (1 available); any Xpc mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• fewer epidermal cells accumulate in S-phase and in G2-phase after treatment with 500J/m2 of UV radiation than in mice carrying Xpctm1Ecf alone





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory