Phenotypes Associated with This Genotype

Genotype
MGI:3609425

• Allelic Composition: Chuk^tm1Aki/Chuk^tm1Aki
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

neonatal lethality, complete penetrance ( J:54315 )

• homozygotes are born alive but die within 4 hrs after birth with no apparent liver abnormalities

limbs/digits/tail

abnormal limb morphology ( J:54315 )

• homozygotes exhibit normal bone and cartilage development; however, limb mesenchyme outgrowth is impaired, and mutant limbs fail to emerge because they are kept tightly rolled up by the skin

abnormal limb bud morphology ( J:54315 )

short limbs ( J:54315 )

• at E18.5, homozygotes exhibit shorter limbs with compactly folded leg bones

short tail ( J:54315 )

• at E18.5, homozygotes exhibit shorter tails; the tail cartilage is rolled up

craniofacial

abnormal craniofacial bone morphology ( J:54315 )

• at E18.5, mutant craniofacial bones and cartilage are shorter than wild-type

small cranium ( J:54315 )

short snout ( J:54315 )

shortened head ( J:54315 )

skeleton

abnormal craniofacial bone morphology ( J:54315 )

• at E18.5, mutant craniofacial bones and cartilage are shorter than wild-type

small cranium ( J:54315 )

homeostasis/metabolism

impaired skin barrier function ( J:54315 )

cellular

cellular phenotype ( J:54315 )

N • in culture, mutant embryonic fibroblasts and thymocytes show no defects in cytokine-induced activation of NF-kappaB, as shown by normal responsiveness to TNF and IL-1

abnormal keratinocyte differentiation ( J:54315 )

• at E18.5, homozygotes exhibit deregulated epidermal terminal differentiation

embryo

abnormal limb bud morphology ( J:54315 )

integument

abnormal keratinocyte differentiation ( J:54315 )

• at E18.5, homozygotes exhibit deregulated epidermal terminal differentiation

impaired skin barrier function ( J:54315 )

abnormal hair follicle development ( J:54315 )

• at E18.5, homozygotes exhibit delayed hair follicle development

abnormal epidermis stratum basale morphology ( J:54315 )

• at E18.5, homozygotes exhibit increased cell proliferation in the basal layer of the epidermis, as shown by increased Ki-67 staining

• notably, NF-kappaB activation fails to occur in the mutant basal cell layer

abnormal epidermis stratum corneum morphology ( J:54315 )

parakeratosis ( J:54315 )

absent epidermis stratum granulosum ( J:54315 )

• at E18.5, mutant skin lacks an identifiable stratum granulosum

abnormal epidermis stratum spinosum morphology ( J:54315 )

• at E18.5, mutant skin displays a hyperplastic stratum spinosum

abnormal epidermis suprabasal layer morphology ( J:54315 )

• at E18.5, homozygotes exhibit a few proliferating (Ki-67-positive) cells in the suprabasal layer of the epidermis

epidermal hyperplasia ( J:54315 )

thick epidermis ( J:54315 )

shiny skin ( J:54315 )

tight skin ( J:54315 )

growth/size/body

short snout ( J:54315 )

shortened head ( J:54315 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
fetal encasement syndrome		DOID:0060647	OMIM:613630	J:195185