1. Craniofacial and Dental Defects in the Col1a1Jrt/+ Mouse Model of Osteogenesis Imperfecta
- Author
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Frank Rauch, Hazem Eimar, Faleh Tamimi, J.E. Aubin, Jean-Marc Retrouvey, and Marc D. McKee
- Subjects
musculoskeletal diseases ,0301 basic medicine ,congenital, hereditary, and neonatal diseases and abnormalities ,Periodontal Ligament ,Dentinogenesis imperfecta ,Craniofacial abnormality ,macromolecular substances ,Collagen Type I ,Craniofacial Abnormalities ,Mice ,03 medical and health sciences ,medicine ,Animals ,Periodontal fiber ,Craniofacial ,skin and connective tissue diseases ,General Dentistry ,Dental malocclusion ,Microscopy ,Tooth Abnormalities ,business.industry ,X-Ray Microtomography ,Anatomy ,Osteogenesis Imperfecta ,medicine.disease ,Mice, Mutant Strains ,Collagen Type I, alpha 1 Chain ,Disease Models, Animal ,Microscopy, Electron ,030104 developmental biology ,Osteogenesis imperfecta ,Ehlers–Danlos syndrome ,Maxilla ,Ehlers-Danlos Syndrome ,business - 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 ( Col1a1Jrt/+) 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 Col1a1Jrt/+ 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, Col1a1Jrt/+ 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). Col1a1Jrt/+ mice also had changes in the periodontal compartment and abnormalities in the dentin matrix and mineralization. These findings validate Col1a1Jrt/+ mice as a model for OI and EDS in humans.
- Published
- 2016