Article
Phenotypic variability and incomplete penetrance of spontaneous fractures in an inbred strain of transgenic mice expressing a mutated collagen gene (COL1A1).
The Journal of clinical investigation - 1 Apr 1994
Pereira R, Halford K, Sokolov B P, Khillan J S, Prockop D J
Abstract excerpt
Phenotype variability and incomplete penetrance are frequently observed in human monogenic diseases such as osteogenesis imperfecta. Here an inbred strain of transgenic mice expressing an internally deleted gene for the pro alpha 1(I) chain of type I procollagen (COL1A1) was bred to wild type mic...
Topics
- Animals
- Base Sequence
- Collagen
- Female
- Fractures, Bone
- Male
- Mice
- Mice, Inbred Strains
- Mice, Transgenic
- Molecular Sequence Data
- Mutation
- Phenotype
- RNA, Messenger