Article
First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jun 2014
Chen Frieda, Guo Ruolin, Itoh Shousaku, Moreno Luisa, Rosenthal Esther, Zappitelli Tanya, Zirngibl Ralph A, Flenniken Ann, Cole William, Grynpas Marc, Osborne Lucy R, Vogel Wolfgang, Adamson Lee, Rossant Janet, Aubin Jane E
Abstract excerpt
By using a genome-wide N-ethyl-N-nitrosourea (ENU)-induced dominant mutagenesis screen in mice, a founder with low bone mineral density (BMD) was identified. Mapping and sequencing revealed a T to C transition in a splice donor of the collagen alpha1 type I (Col1a1) gene, resulting in the skipping of exon 9 and a predicted 18-amino acid deletion within the N-terminal region of the triple helical domain of Col1a1....
Topics
- Absorptiometry, Photon
- Alternative Splicing
- Amino Acid Sequence
- Animals
- Base Sequence
- Bone Matrix
- Bone Remodeling
- Bone and Bones
- Calcification, Physiologic