Phenotypes associated with this allele

• Allele Symbol: Acd^tm1.1Blas
• Allele Name: targeted mutation 1.1, Maria A Blasco
• Allele ID: MGI:4462417
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Acd^tm1.1Blas/Acd^tm1.1Blas Tg(KRT5-cre)1Tak/?	involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * SJL	MGI:4462426

Genotype
MGI:4462426

cn1

• Allelic Composition: Acd^tm1.1Blas/Acd^tm1.1Blas; Tg(KRT5-cre)1Tak/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * SJL

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

mortality/aging

postnatal lethality, complete penetrance ( J:160600 )

• no mice survive beyond 2 weeks of age

cellular

abnormal cell nucleus morphology ( J:160600 )

polyploidy ( J:160600 )

• increased polyploidy in keratinocytes

decreased telomere length ( J:160600 )

• accelerated telomere shortening in keratinocytes

abnormal cell cycle ( J:160600 )

abnormal cell cycle checkpoint function ( J:160600 )

• cell cycle arrested at G2 to M transition in keratinocytes

abnormal mitosis ( J:160600 )

• failure of keratinocytes to undergo mitosis

growth/size/body

abnormal oral mucosa morphology ( J:160600 )

• epithelial abnormalities in the oral mucosa

postnatal growth retardation ( J:160600 )

• fail to gain weight after birth

behavior/neurological

aphagia ( J:160600 )

• unable to feed because of epithelial abnormalities in the oral mucosa

digestive/alimentary system

abnormal oral mucosa morphology ( J:160600 )

• epithelial abnormalities in the oral mucosa

endocrine/exocrine glands

absent sebaceous gland ( J:160600 )

neoplasm

preneoplasia ( J:160600 )

• areas of focal skin dysplasia in the skin and other stratified epithelia

craniofacial

abnormal oral mucosa morphology ( J:160600 )

• epithelial abnormalities in the oral mucosa

homeostasis/metabolism

impaired skin barrier function ( J:160600 )

pigmentation

increased skin pigmentation ( J:160600 )

• severe skin hyper-pigmentation at birth

• dependent on Trp53 expression

integument

absent sebaceous gland ( J:160600 )

impaired skin barrier function ( J:160600 )

abnormal coat/ hair morphology ( J:160600 )

• dependent on expression of Trp53

abnormal hair follicle development ( J:160600 )

• hair follicle down-growth is defective

• reduced proliferation in hair primordia

absent hair follicles ( J:160600 )

• lack of mature hair follicles

abnormal skin morphology ( J:160600 )

abnormal epidermal layer morphology ( J:160600 )

• areas of focal skin dysplasia in the skin and other stratified epithelia

abnormal skin appearance ( J:160600 )

dry skin ( J:160600 )

• develops after birth

scaly skin ( J:160600 )

• severe skin scaling develops after birth

increased skin pigmentation ( J:160600 )

• severe skin hyper-pigmentation at birth

• dependent on Trp53 expression