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

I Aubin, CP Adams, S Opsahl, D Septier, CE Bishop… - Nature …, 2005 - nature.com
I Aubin, CP Adams, S Opsahl, D Septier, CE Bishop, N Auge, R Salvayre, A Negre-Salvayre
Nature genetics, 2005nature.com
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.
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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