Mouse Genome Informatics
hm
    Chuktm1Aki/Chuktm1Aki
involves: 129P2/OlaHsd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• homozygotes are born alive but die within 4 hrs after birth with no apparent liver abnormalities

limbs/digits/tail
• 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
• at E18.5, homozygotes exhibit shorter limbs with compactly folded leg bones
• at E18.5, homozygotes exhibit shorter tails; the tail cartilage is rolled up

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

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

homeostasis/metabolism

cellular
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 (J:54315)
• at E18.5, homozygotes exhibit deregulated epidermal terminal differentiation

embryogenesis

integument
• at E18.5, homozygotes exhibit deregulated epidermal terminal differentiation
• at E18.5, homozygotes exhibit delayed hair follicle development
• 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
• at E18.5, mutant skin lacks an identifiable stratum granulosum
• at E18.5, mutant skin displays a hyperplastic stratum spinosum
• at E18.5, homozygotes exhibit a few proliferating (Ki-67-positive) cells in the suprabasal layer of the epidermis

growth/size

Mouse Models of Human Disease
OMIM IDRef(s)
Cocoon Syndrome 613630 J:195185