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Phenotypes Associated with This Genotype
Genotype
MGI:4361117
Allelic
Composition
Xpatm1Tnka/Xpatm1Tnka
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Xpatm1Tnka mutation (0 available); any Xpa mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
• treatment with benzo(a)pyrene by intratracheal instillation leads to lung adenomas in 71% of homozygotes compared to 35% of controls
• in 10% of mice after treatment with benzo(a)pyrene by intratracheal instillation

growth/size/body
• the weight of males up to 2 years of age is reduced relative to that of controls

cellular
• fibroblasts from newborn mice are highly sensitive to UV radiation (J:28709)
• higher inflammatory edema after UV-B exposure (J:28709)
• skin ulcers form within 1-2 weeks of exposure (J:28709)
• mice develop stronger and longer lasting ear swelling/inflammatory edema after ultraviolet B (UV-B) and topical psoralen plus ultraviolet A (PUVA) radiation indicating increased susceptibility to UV-B and PUVA radiation (J:35054)
• abdominal skin shows intracellular edema and necrosis in the epidermis and subepidermal bullae at 24 hours after UV-B irradiation and mice show marked inflammatory infiltrates of lymphocytes, pronounced edema, vasodilation, and extravasation of erythrocytes in the dermis (J:35054)
• mice develop enhanced sunburn cell formation after UV-B irradiation (J:35054)
• defect in nucleotide excision repair
• failure to remove thymine dimers

neoplasm
• spontaneous tumors begin to appear at around 12 months
• spontaneous tumors are very abundant at 24 months
• in all mice by 34 weeks after UV-B exposure
• treatment with benzo(a)pyrene by intratracheal instillation leads to lung adenomas in 71% of homozygotes compared to 35% of controls
• in 10% of mice after treatment with benzo(a)pyrene by intratracheal instillation
• as a result of exposure to 9,10-dimethyl-1,2benz(a)anthracene (DMBA)
• increased sensitivity to the tumor forming effects of 9,10-dimethyl-1,2benz(a)anthracene (DMBA)

immune system
• UV-B-induced local immunosuppression and UV-B-induced systemic immunosuppression are enhanced when mice are sensitized with DNFB after UV-B irradiation
• however, mice develop contact sensitivity to DNFB similarly to controls
• daily UV-B exposure for 3 or 5 days results in a significantly reduced cell count
• slower recovery
• daily UV-B exposure for 3 or 5 days results in a significantly reduced cell count
• cell activity reduced to significantly below non irradiated levels by 1 day after exposure
• slower recovery
• reduced activity persists at least 5 days
• full recovery of activity by day 10
• mice show a greater loss of and morphologic damage of ADPase (+) Langerhans cells after UV-B irradiation
• recovery of Langerhans cells after UV-B irradiation is slower than for controls

reproductive system
• some degeneration seen at 6 months
• by 12 months half of tubules have vacuoles in the spermatogenic epithelium
• relative testis weight drops progressively over time
• down to 1/3 the weight of testes from control mice at 2 years
• in all seminiferous tubules by 24 months
• lack spermatozoa at 24 months
• males remain fertile until about 30 weeks

homeostasis/metabolism
• defect in nucleotide excision repair
• failure to remove thymine dimers
• PGD2, PGE2 and PGF2alpha levels increase significantly after UV-B irradiation
• increased sensitivity to the tumor forming effects of 9,10-dimethyl-1,2benz(a)anthracene (DMBA)

hematopoietic system
• daily UV-B exposure for 3 or 5 days results in a significantly reduced cell count
• slower recovery
• daily UV-B exposure for 3 or 5 days results in a significantly reduced cell count
• cell activity reduced to significantly below non irradiated levels by 1 day after exposure
• slower recovery
• reduced activity persists at least 5 days
• full recovery of activity by day 10

endocrine/exocrine glands
• some degeneration seen at 6 months
• by 12 months half of tubules have vacuoles in the spermatogenic epithelium
• relative testis weight drops progressively over time
• down to 1/3 the weight of testes from control mice at 2 years

integument
• in all mice by 34 weeks after UV-B exposure

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
xeroderma pigmentosum group A DOID:0110843 OMIM:278700
J:35054


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory