Phenotypes associated with this allele

• Allele Symbol: Terf1^tm1.1Blas
• Allele Name: targeted mutation 1.1, Maria A Blasco
• Allele ID: MGI:4357772
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Terf1^tm1.1Blas/Terf1^tm1.1Blas	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:4357788
cn2	Terf1^tm1.1Blas/Terf1^tm1.1Blas Tg(KRT5-cre)1Tak/0	involves: 129 * C3H * C57BL/6 * SJL	MGI:4357786
cn3	Terf1^tm1.1Blas/Terf1^tm1.1Blas Tg(KRT5-cre)1Tak/0 Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129 * C3H * C57BL/6 * SJL	MGI:4357787

Genotype
MGI:4357788

cn1

• Allelic Composition: Terf1^tm1.1Blas/Terf1^tm1.1Blas
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cellular

abnormal chromosome morphology ( J:152077 )

• mouse embryonic fibroblasts transfected with cre adenovirus exhibit an increase in multitelomeric signals compared to in similarly treated wild-type cells

abnormal telomere length ( J:152077 )

• mouse embryonic fibroblasts transfected with cre adenovirus exhibit an increase in telomeres dysfunction-induced foci compared with un-infected cells

decreased cell proliferation ( J:152077 )

• mouse embryonic fibroblasts transfected with cre adenovirus fail to proliferate due to rapid induction of senescence unlike similarly treated wild-type cells

• however, additional transfection with Trp53 short hairpin RNA restores proliferation

early cellular replicative senescence ( J:152077 )

• mouse embryonic fibroblasts transfected with cre adenovirus fail to proliferate due to rapid induction of senescence unlike similarly treated wild-type cells

• however, additional transfection with Trp53 short hairpin RNA restores normal senescence

Genotype
MGI:4357786

cn2

• Allelic Composition: Terf1^tm1.1Blas/Terf1^tm1.1Blas; Tg(KRT5-cre)1Tak/0
• Genetic Background: involves: 129 * C3H * C57BL/6 * SJL

mortality/aging

perinatal lethality, incomplete penetrance ( J:152077 )

• although born in Mendelian ratios, only 8% of mice reach P3

digestive/alimentary system

abnormal palate morphology ( J:152077 )

• in 72% of mice, palate epithelium is dysplastic in areas with nuclear atypia and areas of hyperkeratosis

abnormal tongue epithelium morphology ( J:152077 )

• in 78% of mice, tongue epithelium is dysplastic with lack of filiform papillae and severe hyperkeratosis

abnormal filiform papillae morphology ( J:152077 )

• absent

abnormal esophagus morphology ( J:152077 )

• one mouse exhibited a collapsed lumen filled with lamellate keratin

abnormal esophageal epithelium morphology ( J:152077 )

• hyperkeratosis and dysplasia of the esophagus in 17% of mice

abnormal stomach epithelium morphology ( J:152077 )

• in 22% of mice, the non-glandular stomach exhibit dysplasia with nuclear pleomorphism and collapsed lumen with lamellate keratin

growth/size/body

abnormal palate morphology ( J:152077 )

• in 72% of mice, palate epithelium is dysplastic in areas with nuclear atypia and areas of hyperkeratosis

abnormal tongue epithelium morphology ( J:152077 )

• in 78% of mice, tongue epithelium is dysplastic with lack of filiform papillae and severe hyperkeratosis

abnormal filiform papillae morphology ( J:152077 )

• absent

decreased body weight ( J:152077 )

• after birth, mice fail to gain weight after birth

postnatal growth retardation ( J:152077 )

• after birth, mice fail to gain weight after birth

homeostasis/metabolism

impaired skin barrier function ( J:152077 )

craniofacial

abnormal palate morphology ( J:152077 )

• in 72% of mice, palate epithelium is dysplastic in areas with nuclear atypia and areas of hyperkeratosis

abnormal tongue epithelium morphology ( J:152077 )

• in 78% of mice, tongue epithelium is dysplastic with lack of filiform papillae and severe hyperkeratosis

abnormal filiform papillae morphology ( J:152077 )

• absent

endocrine/exocrine glands

absent sebaceous gland ( J:152077 )

cellular

abnormal chromosome morphology ( J:152077 )

• keratinocytes exhibit increased DNA damage foci specifically localized to the telomeres compared to in wild-type cells

abnormal telomere length ( J:152077 )

• skin cells exhibit no telomere shortening unlike in wild-type cells

immune system

skin inflammation ( J:152077 )

• mice exhibit mixed inflammatory infiltration in the dermis

pigmentation

increased skin pigmentation ( J:152077 )

• severe skin hyperpigmentation

integument

absent sebaceous gland ( J:152077 )

absent hair follicles ( J:152077 )

abnormal skin morphology ( J:152077 )

• mice exhibit skin and follicular papillary atrophy

• skin cells exhibit no telomere shortening unlike in wild-type cells

hyperkeratosis ( J:152077 )

• the stratified epithelia of the tongue, palate, esophagus, and nongrandular stomach exhibit severe hyperkeratosis and dysplasia unlike in wild-type mice

orthokeratosis ( J:152077 )

epidermal hyperplasia ( J:152077 )

increased skin pigmentation ( J:152077 )

• severe skin hyperpigmentation

abnormal skin development ( J:152077 )

abnormal skin physiology ( J:152077 )

• proliferation of skin cells is decreased compared to in wild-type mice with an arrest in G2/M

• epidermal stem cells fail to form colonies in an clonogenic assay unlike wild-type cells

impaired skin barrier function ( J:152077 )

skin inflammation ( J:152077 )

• mice exhibit mixed inflammatory infiltration in the dermis

abnormal keratinocyte physiology ( J:152077 )

• keratinocytes fail to form colonies in an clonogenic assay unlike wild-type cells

Genotype
MGI:4357787

cn3

• Allelic Composition: Terf1^tm1.1Blas/Terf1^tm1.1Blas; Tg(KRT5-cre)1Tak/0; Trp53^tm1Tyj/Trp53^tm1Tyj
• Genetic Background: involves: 129 * C3H * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:152077 )

N • perinatal and early postnatal lethality is normal

neoplasm

increased skin squamous cell carcinoma incidence ( J:152077 )

• in tail and ear skin of older mice

craniofacial

oral leukoplakia ( J:152077 )

digestive/alimentary system

oral leukoplakia ( J:152077 )

integument

integument phenotype ( J:152077 )

N • hair growth and skin pigmentation are normal

abnormal nail morphology ( J:152077 )

increased skin squamous cell carcinoma incidence ( J:152077 )

• in tail and ear skin of older mice

growth/size/body

oral leukoplakia ( J:152077 )