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

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

Affiliation

  • 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.

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