Studies on molecular mechanisms of mammalian early embryonic development by means of recessive lethal mutations.

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We identified the transgene insertion allele of mouse Ext2, one of the causative genes of human multiple hereditaryexostoses, which catalyzes elongation of HS-chains. Marker expression analyses of Ext2-deficient embryos revealed that HS-chains are essential for response to Fibroblast growth factor (FGF) signaling and, in particular, local distribution of the FGF ligands as well as FGF signaling. Moreover, HS-chains expression attached with cell surface is distinctively specific to those areas in which FGF signaling is potentially active. Fur