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that generate DNA damage normally repaired by NER (e.g. bulky DNA adducts) compared with Hupki:Xpa-wild-type controls (unpublished data).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 41 - 50 of 81 Stock Publications
Pubmed ID Authors Title Journal
11695546 van Steeg H DNA repair-deficient Xpa and Xpa/p53+/- knock-out mice: nature of the models. Toxicol Pathol (2 001) 29 Suppl:109-16
17998932 Reinbold M Common tumour p53 mutations in immortalized cells from Hupki mice heterozygous at codon 72. Oncogene (2 008) 27:2788-94
9619829 de Vries A XPA-deficiency in hairless mice causes a shift in skin tumor types and mutational target genes after exposure to low doses of U.V.B. Oncogene (1 998) 16:2205-12
19696161 Jonker MJ Finding transcriptomics biomarkers for in vivo identification of (non-)genotoxic carcinogens using wild-type and Xpa/p53 mutant mouse models. Carcinogenesis (2 009) 30:1805-12
15657287 Schwarz A Prevention of UV radiation-induced immunosuppression by IL-12 is dependent on DNA repair. J Exp Med (2 005) 201:173-9
15949822 van Zeeland AA Transcription-coupled repair: impact on UV-induced mutagenesis in cultured rodent cells and mouse skin tumors. Mutat Res (2 005) 577:170-8
17417627 Song H p53 gain-of-function cancer mutants induce genetic instability by inactivating ATM. Nat Cell Biol (2 007) 9:573-80
9110400 de Vries A Xpa knockout mice. Semin Cancer Biol (1 996) 7:229-40
11285198 Klein JC Intestinal toxicity and carcinogenic potential of the food mutagen 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) in DNA repair deficient XPA-/- mice. Carcinogenesis (2 001) 22:619-26
16493047 Schwarz A IL-18 reduces ultraviolet radiation-induced DNA damage and thereby affects photoimmunosuppression. J Immunol (2 006) 176:2896-901

Pages

Orphanet Categories

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

Genetic Status

GMO

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