A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse

  • Nat Genet. 2005 Aug;37(8):803-5. doi: 10.1038/ng1603.
Isabelle Aubin  1 ,  Carolyn P Adams ,  Sibylle Opsahl ,  Dominique Septier ,  Colin E Bishop ,  Nathalie Auge ,  Robert Salvayre ,  Anne Negre-Salvayre ,  Michel Goldberg ,  Jean-Louis Guénet ,  Christophe Poirier
Affiliations
  • 1. Unité de Génétique des Mammifères, Institut Pasteur, 25 rue du Docteur Roux, 75724 Paris Cedex 15, France.
PMID: 16025116 DOI: 10.1038/ng1603
Abstract

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 and provides new insight into human pathologies.