Tg(KRT5-Terf2)PMBlas
Transgene Detail

Summary

• Symbol: Tg(KRT5-Terf2)PMBlas
• Name: transgene insertion PM, Maria A Blasco
• MGI ID: MGI:6258221
• Synonyms: PM K5-Terf2
• Transgene: Tg(KRT5-Terf2)PMBlas Location: unknown Genetic Position: ChrX, Syntenic
• Alliance: Tg(KRT5-Terf2)PMBlas page

Transgene origin

• Strain of Origin: (C57BL/6 x CBA)F1

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence)
• Mutation: Insertion
• Tg(KRT5-Terf2)PMBlas expresses 1 gene
  Transgene expresses:
  

  Organism	Expressed Gene	Note
  mouse	Terf2 (MGI:1195972)

• Tg(KRT5-Terf2)PMBlas expression driven by 1 gene
  Transgene expression driven by:
  

  Organism	Driver Gene	Note
  cattle	KRT5 (281268)

• Mutation details: The full-length mouse Terf2 cDNA was placed under control of the 5' regulatory region of the bovine keratin K5 promoter, which targets TERF2 to basal cells and stem cells of the epidermis. Three lines were generated and analyzed (PM, PN and PO); a fourth line (PL) had undetectable levels of transgene expression and was not studied further. In the PM line, the transgene is linked to the X chromosome and is selectively silenced in transgenic females. The PM line (males only) showed the highest levels of Terf2 mRNA expression in tail and back skin (~59 times greater than wild-type controls), followed by the PO line (~23 times greater) and the PN line (~12 times greater). Western blot analysis revealed significantly elevated TERF2 protein levels in primary keratinocytes derived from PM and PO transgenic mice. Combined immunofluorescence and telomeric Q-FISH analysis showed that the overexpressed TERF2 protein localized to telomeres. (J:102653)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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cx1	Ercc4^tm1Fwa/Ercc4^tm1Fwa Tg(KRT5-Terf2)PMBlas/Y	involves: 129S6/SvEvTac * C57BL/6 * CBA
cx2	Terc^tm1Rdp/Terc^tm1Rdp Tg(KRT5-Terf2)PMBlas/Y	involves: 129/Sv * C57BL/6 * CBA * SJL
cx3	Tg(KRT5-Terf2)PMBlas/Y Tg(KRT5-Tert)8043Blas/0	involves: C57BL/6 * CBA * DBA/2
tg4  Disease Model	Tg(KRT5-Terf2)PMBlas/Y	involves: C57BL/6 * CBA

Phenotypes:

Affected Systems	cx1	cx2	cx3	tg4
show or hide all annotated terms Sex:
cellular	√	√	√	√
abnormal telomere morphology	√			√
decreased telomere length		√	√	√
increased cellular sensitivity to alkylating agents				√
increased cellular sensitivity to ultraviolet irradiation				√
decreased keratinocyte proliferation				√
abnormal DNA repair				√
chromosomal instability				√
induced chromosome breakage				√
craniofacial				√
increased ear pigmentation				√
endocrine/exocrine glands				√
sebaceous gland atrophy				√
growth/size/body				√
increased ear pigmentation				√
hearing/vestibular/ear				√
increased ear pigmentation				√
homeostasis/metabolism				√
abnormal DNA repair				√
integument		√	√	√
sebaceous gland atrophy				√
focal hair loss		√
focal dorsal hair loss				√
hair follicle degeneration				√
abnormal skin morphology				√
increased ear pigmentation				√
epidermal atrophy				√
epidermal hyperplasia				√
dry skin		√		√
skin hyperplasia				√
abnormal epidermal pigmentation				√
increased foot pigmentation				√
increased tail pigmentation				√
increased skin pigmentation			√	√
increased sensitivity to skin irradiation				√
skin photosensitivity				√
increased skin tumor incidence				√
increased keratoacanthoma incidence				√
increased skin squamous cell carcinoma incidence				√
abnormal keratinocyte physiology				√
decreased keratinocyte proliferation				√
limbs/digits/tail				√
increased tail pigmentation				√
mortality/aging				√
prenatal lethality, incomplete penetrance				√
premature aging				√
neoplasm				√
increased skin tumor incidence				√
increased keratoacanthoma incidence				√
increased skin squamous cell carcinoma incidence				√
increased incidence of tumors by UV-induction				√
pigmentation			√	√
increased ear pigmentation				√
abnormal epidermal pigmentation				√
increased foot pigmentation				√
increased tail pigmentation				√
increased skin pigmentation			√	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	tg4
xeroderma pigmentosum IDs xeroderma pigmentosum       DOID:0050427 ICD10CM:Q82.1 MESH:D014983 NCI:C3452 ORDO:910 UMLS_CUI:C0043346 Close	√

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available

References

• Original: J:102653 Munoz P, et al., XPF nuclease-dependent telomere loss and increased DNA damage in mice overexpressing TRF2 result in premature aging and cancer. Nat Genet. 2005 Oct;37(10):1063-71
• All: 1 reference(s)