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that generate DNA damage normally repaired by NER (e.g. bulky DNA adducts) compared with Hupki:Xpa-wild-type controls (unpublished data).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 31 - 40 of 81 Stock Publications
Pubmed ID Authors Title Journal
10838141 van Steeg H Mutagenesis and carcinogenesis in nucleotide excision repair-deficient XPA knock out mice. Mutat Res (2 000) 450:167-80
11719445 Luo JL UV-induced DNA damage and mutations in Hupki (human p53 knock-in) mice recapitulate p53 hotspot alterations in sun-exposed human skin. Cancer Res (2 001) 61:8158-63
9180928 de Vries A Spontaneous liver tumors and benzo[a]pyrene-induced lymphomas in XPA-deficient mice. Mol Carcinog (1 997) 19:46-53
19037232 Jantschitsch C Infrared radiation confers resistance to UV-induced apoptosis via reduction of DNA damage and upregulation of antiapoptotic proteins. J Invest Dermatol (2 009) 129:1271-9
16051635 Rebel H Relationship between UV-induced mutant p53 patches and skin tumours, analysed by mutation spectra and by induction kinetics in various DNA-repair-deficient mice. Carcinogenesis (2 005) 26:2123-30
11323179 van Steeg H The role of nucleotide excision repair and loss of p53 in mutagenesis and carcinogenesis. Toxicol Lett (2 001) 120:209-19
11313961 Luo JL Knock-in mice with a chimeric human/murine p53 gene develop normally and show wild-type p53 responses to DNA damaging agents: a new biomedical research tool. Oncogene (2 001) 20:320-8
7675086 de Vries A Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA. Nature (1 995) 377:169-73
22828138 John K Benzo[a]pyrene (BP) DNA adduct formation in DNA repair-deficient p53 haploinsufficient [Xpa(-/-)p53(+/-)] and wild-type mice fed BP and BP plus chlorophyllin for 28 days. Carcinogenesis (2 012) 33:2236-41
17947680 Schrader CE Activation-induced cytidine deaminase-dependent DNA breaks in class switch recombination occur during G1 phase of the cell cycle and depend upon mismatch repair. J Immunol (2 007) 179:6064-71

Pages

Orphanet Categories

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

Genetic Status

GMO

Contact/Order

For more information or to order stocks, Contact us