Article
A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse.
Nature genetics - 1 Aug 2005
Aubin Isabelle, Adams Carolyn P, Opsahl Sibylle, Septier Dominique, Bishop Colin E, Auge Nathalie, Salvayre Robert, Negre-Salvayre Anne, Goldberg Michel, Guénet Jean-Louis, Poirier Christophe
Abstract excerpt
The mouse mutation fragilitas ossium (fro) leads to a syndrome of severe osteogenesis and dentinogenesis imperfecta with no detectable collagen defect. Positional cloning of the locus identified a deletion in the gene encoding neutral sphingomyelin phosphodiesterase 3 (Smpd3) that led to complete loss of enzymatic activity. Our knowledge of SMPD3 function is consistent with the pathology observed in mutant mice...
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