International Mammalian Genome Society

logo18th International Mouse Genome Conference

17-22 October 2004, Seattle, USA


Donahue LR, Curtain M, Giggey J, Guido V, Hurd J, Davisson M

The Jackson Laboratory, Bar Harbor, United States

We identify and characterize craniofacial disorders in mice to discover genetic and physiological models for human craniofacial dysmorphologies, and share these models with the scientific public. We screen for spontaneous and induced mutations, do comprehensive genetic and characterization studies, and identify gene mutations by candidate gene testing and positional cloning. We provide notification of new models via our website:, offer information and training via our email:, and distribute live mice to investigators worldwide.

Craniofacial dysmorphologies represent nearly 75% of all human congenital malformations visible in newborns and are a complication in over 700 known human genetic syndromes. This diverse group of disorders includes cleft lip and/or palate, abnormal morphology of the skull, face, or jaws, misshapen or missing teeth, plus eye and ear abnormalities, with or without impaired sight or hearing. Discovery of the genetic cause of such dysmorphologies in humans is difficult due to population heterogeneity and to the diversity of interacting environmental and nutritional variables. Consequently, animal models with defined genetic backgrounds maintained in controlled environments are critical for craniofacial gene discovery.

We investigated the heritability of more than 100 craniofacial phenodeviants and found at least 65% of the traits transmissible. Presently we are characterizing the genetic and biologic features of these models. Phenotypes include: cleft lip; abnormal ear pinnae shape, size, and placement; shortened snouts; shortened, domed and asymmetrical skulls; abnormal dentition; abnormal eye morphology, and deafness. Many deviants have more than one phenotype, and are potential models of human craniofacial syndromes.

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