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that generate DNA damage normally repaired by NER (e.g. bulky DNA adducts) compared with Hupki:Xpa-wild-type controls (unpublished data).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 61 - 70 of 81 Stock Publications
Pubmed ID Authors Title Journal
8671725 Dollé ME Evaluation of a plasmid-based transgenic mouse model for detecting in vivo mutations. Mutagenesis (1 996) 11:111-8
12191858 Zielinski B Mouse models for generating P53 gene mutation spectra. Toxicol Lett (2 002) 134:31-7
16472827 Dollé ME Increased genomic instability is not a prerequisite for shortened lifespan in DNA repair deficient mice. Mutat Res (2 006) 596:22-35
19727119 Majewski S IL-23 antagonizes UVR-induced immunosuppression through two mechanisms: reduction of UVR-induced DNA damage and inhibition of UVR-induced regulatory T cells. J Invest Dermatol (2 010) 130:554-62
23395695 Vaid M Silymarin inhibits ultraviolet radiation-induced immune suppression through DNA repair-dependent activation of dendritic cells and stimulation of effector T cells. Biochem Pharmacol (2 013) 85:1066-76
8476606 Gossen JA Plasmid rescue from transgenic mouse DNA using LacI repressor protein conjugated to magnetic beads. Biotechniques (1 993) 14:624-9
16904611 Andressoo JO An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria. Cancer Cell (2 006) 10:121-32
24813611 Fang EF Defective mitophagy in XPA via PARP-1 hyperactivation and NAD(+)/SIRT1 reduction. Cell (2 014) 157:882-96
18443001 Mariño G Premature aging in mice activates a systemic metabolic response involving autophagy induction. Hum Mol Genet (2 008) 17:2196-211
17326724 van der Pluijm I Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome. PLoS Biol (2 007) 5:e2

Pages

Orphanet Categories

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

Genetic Status

GMO

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