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that generate DNA damage normally repaired by NER (e.g. bulky DNA adducts) compared with Hupki:Xpa-wild-type controls (unpublished data).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 21 - 30 of 81 Stock Publications
Pubmed ID Authors Title Journal
10529736 van Oostrom CT Effect of heterozygous loss of p53 on benzo[a]pyrene-induced mutations and tumors in DNA repair-deficient XPA mice. Environ Mol Mutagen (1 999) 34:124-30
25256710 Kung CP Identification of TRIML2, a novel p53 target, that enhances p53 SUMOylation and regulates the transactivation of proapoptotic genes. Mol Cancer Res (2 015) 13:250-62
11950998 de Boer J Premature aging in mice deficient in DNA repair and transcription. Science (2 002) 296:1276-9
22174697 Jaarsma D Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology. PLoS Genet (2 011) 7:e1002405
11888902 Rebel H Suppression of UV carcinogenesis by difluoromethylornithine in nucleotide excision repair-deficient Xpa knockout mice. Cancer Res (2 002) 62:1338-42
16510579 van Schanke A Induction of nevi and skin tumors in Ink4a/Arf Xpa knockout mice by neonatal, intermittent, or chronic UVB exposures. Cancer Res (2 006) 66:2608-15
19881536 Liu DP A common gain of function of p53 cancer mutants in inducing genetic instability. Oncogene (2 010) 29:949-56
9450477 de Vries A Induction of DNA adducts and mutations in spleen, liver and lung of XPA-deficient/lacZ transgenic mice after oral treatment with benzo[a]pyrene: correlation with tumour development. Carcinogenesis (1 997) 18:2327-32
9607915 Jacobs H Hypermutation of immunoglobulin genes in memory B cells of DNA repair-deficient mice. J Exp Med (1 998) 187:1735-43
11221893 Rebel H Early p53-positive foci as indicators of tumor risk in ultraviolet-exposed hairless mice: kinetics of induction, effects of DNA repair deficiency, and p53 heterozygosity. Cancer Res (2 001) 61:977-83

Pages

Orphanet Categories

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

Genetic Status

GMO

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