International Mammalian Genome Society

logo18th International Mouse Genome Conference

17-22 October 2004, Seattle, USA


POSTER 16 - CHARACTERIZATION AND MAPPING OF THE YODA MUTATION

Barbaric I 1, Blake S 2, Hunter AJ 2, Brown SDM 1

1 MRC Mammalian Genetics Unit, Harwell, United Kingdom, 2 GlaxoSmithKline Pharmaceuticals, Harlow, United Kingdom

We have characterised the Yoda mouse mutant carrying an ENU-induced dominant mutation that causes an abnormal craniofacial phenotype, disorganised bone growth plate and late-onset osteopaenia. Mice homozygous for the Yoda mutation die during embryogenesis, around dE9.5. At this stage they exhibit severe growth retardation, as well as anterior and heart patterning defects. Yoda homozygous embryos also fail to turn and their allantois fails to fuse to the chorion. To identify the mutated gene that is underlying the Yoda phenotype, mutant backcrossed animals were genotyped with a panel of markers spanning the genome. The mutation has been localized to a 4.5 Mb region on Chromosome 8. Fine mapping of the mutation has been complicated by the apparent shared haplotype between the used strains. Ongoing work involves high resolution mapping to identify the mutation and extended phenotypic characterization of the mutant phenotype.

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