International Mammalian Genome Society

The 16th International Mouse Genome Conference (2002)


POSTER 62 - AN ENU MUTAGENESIS SCREEN TO ISOLATE CRANIOFACIAL MUTATIONS USING HIGH THROUGHPUT 3D SURFACE SCANS AND DIGITAL IMAGING ANALYSIS

S Durrani
Baylor College of Medicine

2) Bacino C, 1) Lee B, 1) Hentges K, 1) Salinger A 1) Justice M
1) Baylor College of Medicine, 2) Texas Children’s Hospital

Craniofacial malformation constitutes a significant proportion of birth defects (~3% of all live births).  To identify genes important in developmental pathways governing mouse and human craniofacial morphogenesis, we are conducting a mutagenesis screen that utilizes the powerful point mutagen N-ethyl-N-nitrosourea (ENU).  Wildtype male mice are injected with ENU and employed in a 3-generation breeding screen designed to isolate recessive mutations. Mutant mice are identified at weaning by visual inspection, and thus far 13 separate heritable lines with craniofacial anomalies have been identified.  Each line is further analyzed for dysmorphic craniofacial features by 1) non-invasive 3D laser surface scanning analysis 2) skeletal radiograph studies, and 3) digital image analysis of skeletal preparations.  The phenotypes of the mutant lines include: variation in snout length and cranial vault, developmental defects (abnormal suture patterning, symmetry abnormalities), and mandibular and ocular abnormalities.  Parallel to this effort, digital scanning of craniofacial structures in humans is being conducted to compare clinical phenotypes of human disorders in mouse models.


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