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Cebpbtm1Kish
Targeted Allele Detail
Summary
Symbol: Cebpbtm1Kish
Name: CCAAT/enhancer binding protein beta; targeted mutation 1, Tadamitsu Kishimoto
MGI ID: MGI:2180848
Synonyms: NF-IL6(-)
Gene: Cebpb  Location: Chr2:167530835-167532338 bp, + strand  Genetic Position: Chr2, 87.58 cM
Alliance: Cebpbtm1Kish page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:77003
Parent Cell Line:  E14.1 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA neomycin selection cassette replaced a 0.5kb genomic region encoding the basic and the leucine-zipper domains and the 3' untranslated region sequences. Northern blot analysis confirmed a lack of transcript in homozygous mutant mice. (J:77003)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 37 assay results
In Structures Affected by this Mutation: 4 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 8 strains available      Cell Lines: 0 lines available
Carrying any Cebpb Mutation:  23 strains or lines available
Notes
Cebpbtm1Kish homozygotes exhibit prospective signs of cleidocranial dysplasia (CCD) including hypoplastic clavicles, a narrow thoracic cage, and a downward tilted zygomatic arch. These could provide an additional etiological factor of CCD (J:237461)

Phenotypic Similarity to Human Syndrome: cleidocranial dysplasia (DOID:13994).

References
Original:  J:77003 Tanaka T, et al., Targeted disruption of the NF-IL6 gene discloses its essential role in bacteria killing and tumor cytotoxicity by macrophages. Cell. 1995 Jan 27;80(2):353-61
All:  16 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory