Cebpb^tm1Kish
Targeted Allele Detail

Summary

• Symbol: Cebpb^tm1Kish
• 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: Cebpb^tm1Kish 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 details: A 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)

Disease models

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: 26 strains or lines available

Notes

Cebpb^tm1Kish 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)