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that generate DNA damage normally repaired by NER (e.g. bulky DNA adducts) compared with Hupki:Xpa-wild-type controls (unpublished data).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 51 - 60 of 81 Stock Publications
Pubmed ID Authors Title Journal
11408355 Wijnhoven SW DMBA-induced toxic and mutagenic responses vary dramatically between NER-deficient Xpa, Xpc and Csb mice. Carcinogenesis (2 001) 22:1099-106
16557586 Tong WM Aflatoxin-B exposure does not lead to p53 mutations but results in enhanced liver cancer of Hupki (human p53 knock-in) mice. Int J Cancer (2 006) 119:745-9
9702178 De Vries A Ultraviolet-B induced hyperplasia and squamous cell carcinomas in the cornea of XPA-deficient mice. Exp Eye Res (1 998) 67:53-9
14632192 Kölgen W Association of transcription-coupled repair but not global genome repair with ultraviolet-B-induced Langerhans cell depletion and local immunosuppression. J Invest Dermatol (2 003) 121:751-6
16315091 Tsai PS The effect of DNA repair defects on reproductive performance in nucleotide excision repair (NER) mouse models: an epidemiological approach. Transgenic Res (2 005) 14:845-57
16769089 Wijnhoven SW Tissue specific mutagenic and carcinogenic responses in NER defective mouse models. Mutat Res (2 007) 614:77-94
20118236 Whibley C Wild-type and Hupki (human p53 knock-in) murine embryonic fibroblasts: p53/ARF pathway disruption in spontaneous escape from senescence. J Biol Chem (2 010) 285:11326-35
12509265 de Waard H Cell type-specific hypersensitivity to oxidative damage in CSB and XPA mice. DNA Repair (Amst) (2 003) 2:13-25
16464479 Luijten M Phenacetin acts as a weak genotoxic compound preferentially in the kidney of DNA repair deficient Xpa mice. Mutat Res (2 006) 596:143-50
21522133 Ugalde AP Aging and chronic DNA damage response activate a regulatory pathway involving miR-29 and p53. EMBO J (2 011) 30:2219-32

Pages

Orphanet Categories

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

Genetic Status

GMO

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