International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


Barbaric I
MRC Mammalian Genetics Unit, Harwell

Co-Authors: 2) Blake S, 2) Hunter AJ, 1) Brown SDM
Institutions: 1) MRC Mammalian Genetics Unit, Harwell, 2) GlaxoSmithKline Pharmacueticals, Harlow

Mouse mutants have an important role in studying the pathogenesis of disease and gene function. Phenotype-driven approaches using ENU mutagenesis have proved a powerful tool in determining gene function. The mouse mutant Yoda (GENA/110) was identified in a screen of first generation (G1) offspring of ENU-mutagenized males on the basis of craniofacial phenotype. Further investigation has uncovered several other defects in this mutant, including growth retardation and osteopenia. To map the mutant locus, mutant animals were genotyped with a panel of microsatellite markers spanning the genome. The mutation was localized to the distal end of chromosome 8. Current work includes high resolution mapping to identify the mutant locus and extended phenotypic characterization of the mutant phenotype.

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