title: Craniofacial and Dental Defects in the Col1a1Jrt/+ Mouse Model of Osteogenesis Imperfecta.
abstract: Certain mutations in the COL1A1 and COL1A2 genes produce clinical symptoms of both osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) that include abnormal craniofacial growth, dental malocclusion, and dentinogenesis imperfecta. A mouse model (Col1a1(Jrt)/+) was recently developed that had a skeletal phenotype and other features consistent with moderate-to-severe OI and also with EDS. The craniofacial phenotype of 4- and 20-wk-old Col1a1(Jrt)/+ mice and wild-type littermates was assessed by micro-computed tomography (µCT) and morphometry. Teeth and the periodontal ligament compartment were analyzed by µCT, light microscopy/histomorphometry, and electron microscopy. Over time, at 20 wk, Col1a1(Jrt)/+ mice developed smaller heads, a shortened anterior cranial base, class III occlusion, and a mandibular side shift with shorter morphology in the masticatory region (maxilla and mandible). Col1a1(Jrt)/+ mice also had changes in the periodontal compartment and abnormalities in the dentin matrix and mineralization. These findings validate Col1a1(Jrt)/+ mice as a model for OI and EDS in humans.
authors.affiliation: Faculty of Dentistry, McGill University, Montreal, QC, Canada School of Dentistry, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.
authors.forename: H
authors.initials: H
authors.lastname: Eimar
authors.affiliation: Faculty of Dentistry, McGill University, Montreal, QC, Canada.
authors.forename: F
authors.initials: F
authors.lastname: Tamimi
authors.affiliation: Faculty of Dentistry, McGill University, Montreal, QC, Canada.
authors.forename: J-M
authors.initials: JM
authors.lastname: Retrouvey
authors.affiliation: Genetics Unit, Shriners Hospital for Children, Montreal, QC, Canada.
authors.forename: F
authors.initials: F
authors.lastname: Rauch
authors.affiliation: Centre for Modeling Human Disease, Toronto Centre for Phenogenomics, Toronto, ON, Canada Department of Molecular Genetics, Toronto, ON, Canada.
authors.forename: J E
authors.initials: JE
authors.lastname: Aubin
authors.affiliation: Faculty of Dentistry, McGill University, Montreal, QC, Canada Department of Anatomy and Cell Biology, Faculty of Medicine, McGill University, Montreal, QC, Canada faleh.tamimimarino@mcgill.ca marc.mckee@mcgill.ca.
authors.forename: M D
authors.initials: MD
authors.lastname: McKee
mesh_terms: D000818:Animals; D024042:Collagen Type I / Q000235:genetics / Q000502:physiology*; D000090602:Collagen Type I, alpha 1 Chain; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology; D004195:Disease Models, Animal; D004535:Ehlers-Danlos Syndrome / Q000235:genetics / Q000473:pathology; D051379:Mice; D008817:Mice, Mutant Strains; D008853:Microscopy; D008854:Microscopy, Electron; D010013:Osteogenesis Imperfecta / Q000235:genetics / Q000473:pathology*; D010513:Periodontal Ligament / Q000002:abnormalities / Q000473:pathology; D014071:Tooth Abnormalities / Q000235:genetics* / Q000473:pathology; D055114:X-Ray Microtomography
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain
keywords: Ehlers-Danlos syndrome; bone; bone development; craniofacial abnormalities; dentin; tooth calcification