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Nat Genet. 2005 Aug;37(8):803-5. Epub 2005 Jul 17.

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

Author information

1
Unité de Génétique des Mammifères, Institut Pasteur, 25 rue du Docteur Roux, 75724 Paris Cedex 15, France.

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.

PMID:
16025116
DOI:
10.1038/ng1603
[Indexed for MEDLINE]

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