Analysis Tools|
Allele Symbol Allele Name Allele ID |
Xpctm1Ecf targeted mutation 1, Errol C Friedberg MGI:1859840 |
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| Summary |
11 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• murine embryonic fibroblasts are more sensitive to UV radiation than wild-type cells
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• increased sensitivity to oxidative stress
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Lungs of Xpctm1Ecf/Xpctm1Ecf mice show a range of lesions
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• 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
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• most lung tumors are classified as adenomas, with only a few progressing to malignant carcinomas
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• a few lung tumors progress to malignant carcinomas
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• 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
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• most lung tumors are classified as adenomas, with only a few progressing to malignant carcinomas
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• a few lung tumors progress to malignant carcinomas
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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 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• cyclobutane pyrimidine dimers are observed in hair follicles after treatment with a total UV dose of 1.0 kJ/m2
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• basal cells exhibit hypoplasia after a total UV dose of 1.0 kJ/m2 despite the dose being much below the minimal erythema dose
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• 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
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• UV-treated dermal fibroblasts exhibit reduced survival compared with similarly treated wild-type cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at 24 months of age, only 28% of mutants are alive compared to 43% of wild-type
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• some mutants exhibit malignant adenocarcinoma with metastasis to adjacent lymph nodes
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• 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
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• majority of mutants develop lung adenocarcinomas coincident with adenomas
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• 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
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• majority of mutants develop lung adenocarcinomas coincident with adenomas
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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 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 16% developed microscopic tumors
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• increased sensitivity to oxidative stress
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• die before P22
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• 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
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• analysis of UV-induced repair synthesis and RNA synthesis recovery show complete inactivation of nucleotide excision repair (NER)
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• MEFs are more UV-sensitive
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• analysis of UV-induced repair synthesis and RNA synthesis recovery show complete inactivation of nucleotide excision repair (NER)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• animals within a month of birth
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• severe runting
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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 11/12/2024 MGI 6.24 |
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