International Mammalian Genome Society

The 13th International Mouse Genome Conference
October 31-November 3, 1999

Table of Contents * Structure * Bioinformatics * Sequence * Mapping * New Tools * Gene Discovery * Developmental * Mutagenesis * Functional Genomics

F48 Molecular Genetic Analysis of a Transgene-Induced Allele of Oligosyndactylism

Dimitrina D. Pravtcheva and Thomas L. Wise. NYS Institute for Basic Research in Developmental Disabilities, Department of Human Genetics, Staten Island, NY 10314

Oligosyndactylism (Os) is a radiation-induced mutation on mouse chromosome 8 that has a dominant effect on limb development and a recessive lethal effect due to a block in cell cycle progression. We have identified a transgene-induced recessive lethal mutation on mouse chromosome 8 in one of our transgenic lines, 94-A/K, and have demonstrated that this mutation represents a new allele of Os. The transgene-induced mutation should facilitate the isolation of the gene(s) responsible for the mutant phenotype in Os mice. Structural analysis of the transgene locus indicated that there is a deletion of endogenous sequences at the site of transgene insertion. Using probes from the 5' and 3' flanks of the 94-K transgene insertion, we identified several BAC clones that span the deletion. We have begun a search for transcribed sequences in the region surrounding the transgene insertion. Several cDNA clones hybridizing to the BACs that span the transgene-associated deletion have been isolated by cDNA selection. Progress in the characterization of cDNAs from the region of the transgene insertion, and their evaluation as candidate genes for the limb development and cell cycle defects, will be presented.


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