A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse.
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.
Aubin
Isabelle
I
Unité de Génétique des Mammifères, Institut Pasteur, 25 rue du Docteur Roux, 75724 Paris Cedex 15, France.
Adams
Carolyn P
CP
Opsahl
Sibylle
S
Septier
Dominique
D
Bishop
Colin E
CE
Auge
Nathalie
N
Salvayre
Robert
R
Negre-Salvayre
Anne
A
Goldberg
Michel
M
Guénet
Jean-Louis
JL
Poirier
Christophe
C
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
C491483:Smpd3 protein, mouse; D013108:Sphingomyelin Phosphodiesterase