International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)

Table of Contents * Complex Genetics * Developmental Genetics * Gene Annotation * Gene Discovery * Genome Sequencing * Functional Genomics * Mutagenesis * Presentations * Verne Chapman Memorial Lecture

Nader Chalhoub
Clinical Research Institute of Montreal
110 Avenue des Pins Ouest
Montreal (Quebec)
H2W 1R7
Canada

Co-Authors:  Benachenhou , Pata M, and Vacher J
Institution:   Clinical Research Institute of Montreal

Physical mapping and in vivo functional assay toward the identification of the mouse grey-lethal (gl) gene

The grey-lethal mouse displays a severe osteopetrotic phenotype that is the most pertinent animal model for infantile malignant osteopetrosis. In order to identify the grey-lethal (gl) gene that maps to mouse chromosome 10, we have undertaken a positional cloning strategy that resulted in the construction of a detailed genetic map and two physical and transcriptional maps based on the establishment of two large YAC and BAC contigs. Sixteen mouse genes were precisely ordered and mapped to the contigs showing high linkage conservation with the human 6q16-q21 interval. Combined genetic and physical results yielded a fine localization of the gl locus within a ~500 Kb physical interval. An in vivo complementation assay relying on BAC transgenesis was designed to identify the gl gene. Three BACs encompassing the ~500 Kb interval have been injected and the characterization of several BAC transgenic mouse lines that we have generated is currently under way.