title: A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse.
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.
authors: Unité de Génétique des Mammifères, Institut Pasteur, 25 rue du Docteur Roux, 75724 Paris Cedex 15, France.
authors: Isabelle
authors: I
authors: Aubin
authors: Carolyn P
authors: CP
authors: Adams
authors: Sibylle
authors: S
authors: Opsahl
authors: Dominique
authors: D
authors: Septier
authors: Colin E
authors: CE
authors: Bishop
authors: Nathalie
authors: N
authors: Auge
authors: Robert
authors: R
authors: Salvayre
authors: Anne
authors: A
authors: Negre-Salvayre
authors: Michel
authors: M
authors: Goldberg
authors: Jean-Louis
authors: JL
authors: Guénet
authors: Christophe
authors: C
authors: Poirier
mesh_terms: D000818:Animals; D003811:Dentinogenesis Imperfecta / Q000201:enzymology / Q000235:genetics*; D017353:Gene Deletion; D051379:Mice; D008817:Mice, Mutant Strains; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000201:enzymology / Q000235:genetics*; D013108:Sphingomyelin Phosphodiesterase
chemical_list: C491483:Smpd3 protein, mouse; D013108:Sphingomyelin Phosphodiesterase