Model organisms are a powerful genetic tool for identifying and investigating genes that contribute to heritable disorders. Our laboratory is using genetic and developmental approaches in mouse disease models to identify and characterize genes that contribute to congenital disorders of the autonomic nervous system. Our initial efforts have focused on development of the enteric branch of the autonomic system. The enteric nervous system (ENS) controls motility, mucosal transport, tissue defense and vascular perfusion of the gastrointestinal tract. Abnormalities of this system give rise to functional gastrointestinal disorders like Hirschsprung disease (HSCR) and neuronal intestinal dysplasia. We are utilizing the mouse mutant Sox10Dom to map genes that modifiy the severity of defects in the ENS of these mice. Concurrent with our genetic analysis of the Sox10 mutants we are taking embryological approaches to investigate the mechanism of action of the Sox10 modifier loci before the genes are identified. The effects of distinct genetic backgrounds as well as interacting alleles and mutations are being investigated during development. To complement our analyses of disease models, the laboratory is investigating the normal developmental processes of ENS formation. Transgenic strategies that rely upon expression of green flourescent protein are being implemented to facilitate monitoring, selection and gene expression analysis in the ENS during ontogeny of the gastrointestinal tract.This is default text for the community description. This community's Chief or Leader(s) can modify it by editing this page.
- Michelle Southard-Smith
Associate Professor of Medicine & Cell Biology
2215-B Garland Ave
1175 Light Hall
Nashville, TN 37027
United States
615-936-2174 (p)
No contact person provided
MeSH terms are retrieved from PubMed records. Learn more.
Key: MeSH Term Keyword
Alleles autonomic nervous system developmental biology Embryo, Mammalian Endothelins enteric nervous system Female Gene Order Genes, Dominant genetics genomics Homeodomain Proteins Humans Male Molecular Imaging mouse disease models neural crest development Neural Stem Cells Neuroglia Neurons Nuclear Proteins Quantitative Trait Loci quantitative trait loci Receptor, Endothelin B Reverse Transcriptase Polymerase Chain Reaction SOXE Transcription Factors transcription factor Transgenes X Chromosome