Crouzon-like craniofacial dysmorphology in the mouse is caused by an insertional mutation at the Fgf3/Fgf4 locus

Dev Dyn. 1998 Jun;212(2):242-9. doi: 10.1002/(SICI)1097-0177(199806)212:2<242::AID-AJA8>3.0.CO;2-H.

Abstract

Retroviral insertional mutagenesis by means of ES cells has resulted in a new autosomal dominant mutation causing craniofacial dysmorphology in the mouse (Bulgy-eye, Bey). Heterozygous Bey mice are viable and fertile but show facial shortening with increased interorbital distance and precocious closure of several cranial sutures (craniosynostosis). These features provide a murine phenocopy for a large class of human craniofacial dysmorphology syndromes associated with craniosynostosis, particularly Crouzon syndrome. The retroviral vector integration responsible for the Bey mutation is inserted in the intragenic region between Fgf3 and Fgf4. Transcript analysis demonstrates that expression of both Fgf3 and Fgf4 is up-regulated in the cranial sutures of Bey mice. Many of these human craniosynostosis syndromes are caused by mutations in the extracellular domain of receptors for fibroblast growth factors that result in constitutive receptor activation. Our data confirm that fibroblast growth factor signalling pathways are involved in craniofacial development and suggest that some human malformation pedigrees or sporadic craniosynostosis may be caused by mutations that deregulate expression of the Fgf ligands.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Craniofacial Dysostosis / genetics*
  • Craniofacial Dysostosis / pathology
  • DNA Primers / genetics
  • Disease Models, Animal
  • Female
  • Fibroblast Growth Factor 3
  • Fibroblast Growth Factor 4
  • Fibroblast Growth Factors / genetics*
  • Genetic Techniques
  • Heterozygote
  • Humans
  • Male
  • Mice
  • Mutagenesis, Insertional
  • Mutation*
  • Phenotype
  • Polymerase Chain Reaction
  • Proto-Oncogene Proteins / genetics*

Substances

  • DNA Primers
  • FGF3 protein, human
  • FGF4 protein, human
  • Fgf3 protein, mouse
  • Fgf4 protein, mouse
  • Fibroblast Growth Factor 3
  • Fibroblast Growth Factor 4
  • Proto-Oncogene Proteins
  • Fibroblast Growth Factors