Article
Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta.
Proceedings of the National Academy of Sciences of the United States of America - 1 Mar 1993
Chipman S D, Sweet H O, McBride D J, Davisson M T, Marks S C, Shuldiner A R, Wenstrup R J, Rowe D W, Shapiro J R
Abstract excerpt
Osteogenesis imperfecta (OI) is a heritable disorder of connective tissue associated with fractures, osteopenia, and short stature. OI results from mutations affecting the pro alpha 1 or pro alpha 2 gene of type I collagen. We describe a strain of mice with a nonlethal recessively inherited mutat...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Bone and Bones
- Chromosome Mapping
- Collagen
- Genes
- Genes, Recessive
- Genetic Linkage
- Mice
- Mice, Mutant Strains
- Molecular Sequence Data
- Mutation
- Osteogenesis Imperfecta