International Mammalian Genome Society

logo18th International Mouse Genome Conference

17-22 October 2004, Seattle, USA


Keener VL, Garcia M, Dawson B, Bacino C, Lee B, Justice MJ

Baylor College of Medicine, Houston, United States

The mouse is a powerful animal model for studying diseases and defects analogous to those in humans. By using a three-generation mutagenesis screen after treatment of male mice with N-ethyl-N-nitrosourea (ENU), we isolate many strains of mutant mice,  ~10% of which have craniofacial abnormalities.  Craniofacial phenotypes can be caused by perturbations of many developmental processes, including neural crest cell migration, osteoblast differentiation, tooth and palate formation, and nasal and eye morphogenesis. To rapidly classify and prioritize these mutants, we have developed a novel method for characterizing mouse craniofacial mutations.  Our protocol combines observation with Cyberware 3-dimensional surface laser scanning and imaging, coupled with morphometric analysis and Euclidean Distance Matrix Analysis (EDMA). Further classification of mouse mutants includes radiograph studies, pathology, and skeleton preparation.

Of particular interest for our initial studies are mutant lines that demonstrate:  1) a possible CAP Syndrome model with severe craniosynostosis, as well as frontal and parietal foramina, 2) a patterning defect with vertebral and clavicle abnormalities, 3) asymmetric facial development, and 4) complete transformation to a different facial shape.

We have tested software for morphometric analysis of our mouse mutants, and are working on further refinement of our protocol.  Statistical analysis performed on many other lines has identified facial measurements that are abnormal compared with wild type mice. We are able to prioritize our mutants quickly and easily, and rapidly generate morphological data.  Our studies will help to determine parameters that are important for analyzing craniofacial dimensions over time in comparative mouse-human syndromes.

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