Phenotypes Associated with This Genotype

Genotype
MGI:4357786

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

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

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