International Mammalian Genome Society

The 16th International Mouse Genome Conference (2002)


POSTER 136 - ANALYSIS OF THE BROWN DELETION COMPLEX ON MOUSE CHROMOSOME 4 AND ISOLATION OF CANDIDATE GENES FOR EXISTING AND ENU INDUCED MOUSE MUTANTS

I Smyth
MRC Human Genetics Unit

1) Edgar R, 2) Holdsworth A, 1) Taylor M, 1) White S, 2) Justice M, 1) Jackson I
1) MRC Human Genetics Unit, 2) Baylor College of Medicine

The brown (Tyrp1) locus on mouse chromosome 4 is one of the best studied regions of the mouse genome. Over the last 50 years a panel of 27 independent deletions, generated from a variety of mutagenic protocols, have been characterised within this region.  We have utilised this resource and sequence from a BAC contig across this 22Mb interval to define deletion breakpoints and to identify candidate genes for several mouse phenotypes known to map to this region.  We have used ENU to generate mutant mice which map to this interval by crossing mutagenised animals with mice carrying brown deletions.  This approach has identified more than 26 recessive mutant mouse lines whose phenotypes range from lethality to defects of behaviour and development.   We present analysis of candidate genes for two mutants which map in the region; depilated (dep), a spontaneous mutation affecting the coat and brown associated fitness (baf), a semi-viable mutant which has an uncharacterised gut pathology.  The dep candidate, Depc, is part of a conserved and novel extracellular matrix protein family whose expression pattern suggests that they play an integral role in the epidermal interactions in a number of species.  We have also characterised a novel candidate gene for baf, termed Big1, whose expression is confined to several cell types in the gut.  Because of the number of overlapping deletions it has been possible to map existing and ENU generated mutants rapidly and to place them within the context of the BAC contig.


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