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Phenotypes Associated with This Genotype
Genotype
MGI:6258418
Allelic
Composition
Tg(KRT5-Terf2)POBlas/0
Genetic
Background
involves: C57BL/6 * CBA
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No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice are born with normal Mendelian distribution, unlike Tg(KRT5-Terf2)PMBlas transgenic males

integument
• less severe than that observed in Tg(KRT5-Terf2)PMBlas transgenic males
• less severe than that observed in Tg(KRT5-Terf2)PMBlas transgenic males
• less severe than that observed in Tg(KRT5-Terf2)PMBlas transgenic males
• mice exhibit hyperpigmentation of light-exposed skin areas (tail, paws and ear) relative to wild-type controls
• skin hyperpigmentation is less severe than that observed in Tg(KRT5-Terf2)PMBlas transgenic males
• UVB-irradiated mice show a significant increase in UV-induced pyrimidine (6-4) photoproducts (6-4 PPs) and of cyclobutyl pyrimidine dimers (CPDs) in skin relative to similarly irradiated wild-type controls
• light-exposed areas of the skin (tail and ear) show skin dryness, atrophy, hyperpigmentation, hair loss, hyperplastic and dysplastic lesions, and increased incidence of skin tumors with age
• older mice develop spontaneous tumors in light-exposed areas of the skin, such as the tail
• 18% of mice exhibit spontaneous skin tumors at 6-12 months of age
• at >1 year of age, 23% of mice show keratoacanthomas and squamous cell carcinomas in the tail, with some mice exhibiting multiple tumors
• in culture, primary skin keratinocytes are less viable than those from wild-type controls

pigmentation
• less severe than that observed in Tg(KRT5-Terf2)PMBlas transgenic males
• less severe than that observed in Tg(KRT5-Terf2)PMBlas transgenic males
• less severe than that observed in Tg(KRT5-Terf2)PMBlas transgenic males
• mice exhibit hyperpigmentation of light-exposed skin areas (tail, paws and ear) relative to wild-type controls
• skin hyperpigmentation is less severe than that observed in Tg(KRT5-Terf2)PMBlas transgenic males

cellular
• at 4 months of age, mice have markedly shorter telomeres in tail skin than age-matched wild-type controls
• Q-FISH analysis of metaphases from primary keratinocytes revealed shorter telomeres, increased frequencies of signal-free ends (telomeres with no TTAGGG signal), and more end-to-end fusions lacking TTAGGG repeats at the fusion point relative to wild-type cells
• MMC-treated keratinocytes show a 2-fold increase in complex chromosomal aberrations (breaks, fragments, chromatid crosslinks and tri-radials) relative to MMC-treated wild-type controls, suggesting defective repair of DNA crosslinks
• in culture, primary keratinocytes are hypersensitive to increasing doses of mitomycin C (MMC), as determined by survival 5 days after MMC treatment
• UVB-irradiated primary keratinocytes exhibit reduced viability relative to similarly irradiated wild-type keratinocytes
• Q-FISH analysis of metaphases from primary keratinocytes revealed more complex chromosomal aberrations (chromatid crosslinks, chromosomes with multiple telomeres and interstitial telomeres) relative to wild-type cells
• chromosomal instability is further exacerbated with increasing culture passage
• MMC-treated keratinocytes show twice as many complex chromosomal breaks and fragments as MMC-treated wild-type keratinocytes

neoplasm
• older mice develop spontaneous tumors in light-exposed areas of the skin, such as the tail
• 18% of mice exhibit spontaneous skin tumors at 6-12 months of age
• at >1 year of age, 23% of mice show keratoacanthomas and squamous cell carcinomas in the tail, with some mice exhibiting multiple tumors
• mice develop papillomas and severe skin ulcerations 18 weeks after the start of chronic UVB irradiation treatment, whereas similarly irradiated wild-type cohorts never develop such lesions
• 30 weeks after the start of UVB irradiation treatment, mice develop rapidly growing skin tumors that result in decreased survival, unlike similarly irradiated wild-type controls
• at time of death, chronically irradiated mice show lesions ranging from pretumoral lesions (actinic keratosis, actinic dermatitis, hyperplasia and dysplasia) to different degrees of squamous cell carcinomas (in situ, well differentiated and poorly differentiated) and fibrosarcomas

homeostasis/metabolism
• MMC-treated keratinocytes show a 2-fold increase in complex chromosomal aberrations (breaks, fragments, chromatid crosslinks and tri-radials) relative to MMC-treated wild-type controls, suggesting defective repair of DNA crosslinks

craniofacial
• less severe than that observed in Tg(KRT5-Terf2)PMBlas transgenic males

growth/size/body
• less severe than that observed in Tg(KRT5-Terf2)PMBlas transgenic males

hearing/vestibular/ear
• less severe than that observed in Tg(KRT5-Terf2)PMBlas transgenic males

limbs/digits/tail
• less severe than that observed in Tg(KRT5-Terf2)PMBlas transgenic males

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
xeroderma pigmentosum DOID:0050427 J:102653


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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
08/03/2022
MGI 6.21
The Jackson Laboratory