Chuk^tm1Aki
Targeted Allele Detail

Summary

• Symbol: Chuk^tm1Aki
• Name: conserved helix-loop-helix ubiquitous kinase; targeted mutation 1, Shizuo Akira
• MGI ID: MGI:1857735
• Synonyms: IKKalpha^-
• Gene: Chuk Location: Chr19:44061774-44095919 bp, - strand Genetic Position: Chr19, 36.71 cM
• Alliance: Chuk^tm1Aki page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:54315
• Parent Cell Line: E14.1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin resistance cassette replaced an exon encoding subdomain VI of the kinase catalytic domain. Northern and western blot analysis of embryonic fibroblast cells derived from homozygous mice confirmed that expression of the mRNA and protein was abolished. (J:54315)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Chuk^tm1Aki/Chuk^tm1Aki	involves: 129P2/OlaHsd

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
cellular	√
cellular phenotype	N
abnormal keratinocyte differentiation	√
craniofacial	√
abnormal craniofacial bone morphology	√
small cranium	√
short snout	√
shortened head	√
embryo	√
abnormal limb bud morphology	√
growth/size/body	√
short snout	√
shortened head	√
homeostasis/metabolism	√
impaired skin barrier function	√
integument	√
abnormal keratinocyte differentiation	√
impaired skin barrier function	√
abnormal hair follicle development	√
abnormal epidermis stratum basale morphology	√
abnormal epidermis stratum corneum morphology	√
parakeratosis	√
absent epidermis stratum granulosum	√
abnormal epidermis stratum spinosum morphology	√
abnormal epidermis suprabasal layer morphology	√
epidermal hyperplasia	√
thick epidermis	√
shiny skin	√
tight skin	√
limbs/digits/tail	√
abnormal limb morphology	√
abnormal limb bud morphology	√
short limbs	√
short tail	√
mortality/aging	√
neonatal lethality, complete penetrance	√
skeleton	√
abnormal craniofacial bone morphology	√
small cranium	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

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disease model

expected model not found

Models:

Human Diseases	hm1
fetal encasement syndrome IDs fetal encasement syndrome       DOID:0060647 OMIM:613630 ORDO:465824 Close	√

Expression

In Mice Carrying this Mutation:	11 assay results
In Structures Affected by this Mutation:	11 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Chuk Mutation: 51 strains or lines available

References

• Original: J:54315 Takeda K, et al., Limb and skin abnormalities in mice lacking IKKalpha [see comments]. Science. 1999 Apr 9;284(5412):313-6
• All: 13 reference(s)