Stock

FESA Number

6596

Strain Name

B6;129-Xpa<tm1Hvs>Trp53<tm1holl>Tg(pUR288)1Vij/H

Mutation Strain Type

Attribution

Gene/Allele Information

Allele Name Allele MGI ID Gene Name Gene MGI ID Chromosome
Trp53<tm1Holl> MGI:2157167 Trp53 MGI:98834 11
Xpa<tm1Hvs> MGI:1857939 Xpa MGI:99135 4
Tg(pUR288)1Vij MGI:3606518 Tg(pUR288)1Vij MGI:3606513 11

Severity Limit

Mild

Phenotypic Description

Mice that are homozygous for the targeted Trp53 mutation (i.e. Hupki) are healthy, fertile and do not display any gross abnormalities. The expression and functional activity of the chimeric Trp53 gene in homozygous Hupki mice is normal. Homozygous Hupki mice that are also homozygous for the targeted Xpa knockout mutation (i.e. Xpa-Null) are viable and fertile and do not undergo spontaneous tumour development. (However, the stock was not maintained by homozygous matings, but by mating Xpa<tm1Hvs>/+ to +/+). Xpa is required for nucleotide excision repair (NER), therefore Xpa-Null mice and cells are completely deficient in NER. Hupki:Xpa-Null mice and embryo fibroblasts are highly sensitive to carcinogens that generate DNA damage normally repaired by NER (e.g. bulky DNA adducts) compared with Hupki:Xpa-wild-type controls (unpublished data).

Orphanet Disorders

OrphaNet ID Name Url
276 249 Xeroderma pigmentosum complementation group A http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276249

Publications

Displaying 71 - 80 of 81 Stock Publications
Pubmed ID Authors Title Journal
7666872 Gossen JA Spontaneous and X-ray-induced deletion mutations in a LacZ plasmid-based transgenic mouse model. Mutat Res (1 995) 331:89-97
19114557 Andressoo JO An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair. Mol Cell Biol (2 009) 29:1276-90
10843671 Garssen J Transcription-coupled and global genome repair differentially influence UV-B-induced acute skin effects and systemic immunosuppression. J Immunol (2 000) 164:6199-205
16178126 McAnulty PA Diethylstilbestrol (DES): carcinogenic potential in Xpa-/-, Xpa-/- / p53+/-, and wild-type mice during 9 months' dietary exposure. Toxicol Pathol (2 005) 33:609-20
17173483 van de Ven M Adaptive stress response in segmental progeria resembles long-lived dwarfism and calorie restriction in mice. PLoS Genet (2 006) 2:e192
24740260 Reiling E The progeroid phenotype of Ku80 deficiency is dominant over DNA-PKCS deficiency. PLoS One (2 014) 9:e93568
9044829 Berg RJ Relative susceptibilities of XPA knockout mice and their heterozygous and wild-type littermates to UVB-induced skin cancer. Cancer Res (1 997) 57:581-4
10022133 Giese H Accelerated accumulation of somatic mutations in mice deficient in the nucleotide excision repair gene XPA. Oncogene (1 999) 18:1257-60
18316597 Melis JP Mouse models for xeroderma pigmentosum group A and group C show divergent cancer phenotypes. Cancer Res (2 008) 68:1347-53
19136475 van Kesteren PC DNA repair-deficient Xpa/p53 knockout mice are sensitive to the non-genotoxic carcinogen cyclosporine A: escape of initiated cells from immunosurveillance? Carcinogenesis (2 009) 30:538-43

Pages

Orphanet Categories

Rare developmental defect during embryogenesis
Rare neurologic disease
Rare skin disease
Rare oncologic disease

Genetic Status

GMO

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