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Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development.

We have generated Cbfa1-deficient mice. Homozygous mutants die of respiratory failure shortly after birth. Analysis of their skeletons revealed an absence of osteoblasts and bone. Heterozygous mice showed specific skeletal abnormalities that are characteristic of the human heritable skeletal disorder, cleidocranial dysplasia (CCD). These defects are also observed in a mouse Ccd mutant for this disease. The Cbfa1 gene was shown to be deleted in the Ccd mutation. Analysis of embryonic Cbfa1 expression using a lacZ reporter gene revealed strong expression at sites of bone formation prior to the earliest stages of ossification. Thus, the Cbfa1 gene is essential for osteoblast differentiation and bone formation, and the Cbfa1 heterozygous mouse is a paradigm for a human skeletal disorder.

Pubmed ID: 9182764


  • Otto F
  • Thornell AP
  • Crompton T
  • Denzel A
  • Gilmour KC
  • Rosewell IR
  • Stamp GW
  • Beddington RS
  • Mundlos S
  • Olsen BR
  • Selby PB
  • Owen MJ



Publication Data

May 30, 1997

Associated Grants

  • Agency: NIAMS NIH HHS, Id: AR36819

Mesh Terms

  • Animals
  • Bone Development
  • Cell Differentiation
  • Cleidocranial Dysplasia
  • Core Binding Factor Alpha 1 Subunit
  • Gene Deletion
  • Gene Targeting
  • Humans
  • Mice
  • Mice, Mutant Strains
  • Neoplasm Proteins
  • Osteoblasts
  • Syndrome
  • Transcription Factors