The Sry-related gene Sox9 is expressed during chondrogenesis in mouse embryos

Nat Genet. 1995 Jan;9(1):15-20. doi: 10.1038/ng0195-15.


Mutations in the human SRY-related gene, SOX9, located on chromosome 17, have recently been associated with the sex reversal and skeletal dysmorphology syndrome, campomelic dysplasia. In order to clarify the role of this gene in skeletal development, we have studied the expression of mouse Sox9 during embryogenesis. Sox9 is expressed predominantly in mesenchymal condensations throughout the embryo before and during the deposition of cartilage, consistent with a primary role in skeletal formation. Interspecific backcross mapping has localized mouse Sox9 to distal chromosome 11. The expression pattern and chromosomal location of Sox9 suggest that it may be the gene defective in the mouse skeletal mutant Tail-short, a potential animal model for campomelic dysplasia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Bone Diseases, Developmental / genetics
  • Cartilage / embryology*
  • Chromosome Mapping
  • DNA, Complementary / genetics
  • Disease Models, Animal
  • Disorders of Sex Development
  • Embryonic and Fetal Development / genetics
  • Female
  • Gene Expression Regulation, Developmental*
  • High Mobility Group Proteins / genetics*
  • Humans
  • In Situ Hybridization
  • Male
  • Mice
  • Molecular Sequence Data
  • Mutation
  • Pregnancy
  • SOX9 Transcription Factor
  • Transcription Factors / genetics*


  • DNA, Complementary
  • High Mobility Group Proteins
  • SOX9 Transcription Factor
  • SOX9 protein, human
  • Sox9 protein, mouse
  • Transcription Factors