Mouse models of human inherited facial dysmorphologies-Craniofacial Resource

  • Leah Rae Donahue, Ph.D., Senior Research Scientist, Director of Genetic Resource Science
  • Stephen A. Murray, Ph.D, Research Scientist
  • Michelle M. Curtain, B.A., Research Assistant II
  • Coleen C. Kane, Biomedical Technologist II

The aims of the Craniofacial Resource are to discover and characterize new craniofacial mouse mutations and to provide the scientific community with models for facial, dental, eye, ear and skull development research, as well as mouse models of human craniofacial syndromes.  New deviants, which arise spontaneously among the millions of inbred mice produced yearly at The Jackson Laboratory, are shown twice a month at Deviant Search.  Craniofacial deviants selected from those shown, are taken for study by members of the CF Resource.  Our group also manages the production of large numbers of ENU-mutagenized mice, which provides an additional source of craniofacial deviants.  Deviants are tested for heritability, their craniofacial abnormality is characterized, and a linkage cross is made to determine the mutant gene's chromosomal location.

The Craniofacial Resource is supported through funding awarded to The Jackson Laboratory by The National Eye Institute (grant number EY015073). Please reference this grant in citations acknowledging use of the resource.

See a list of our mapped mutations. Our goal is to make these spontaneous mutants as useful as possible to the research community. Toward that effort, we may continue to work on any of these posted mutants and will contribute additional data as collected.

Other Resources offering craniofacial phenotypes: