Article
Identification of the oim mutation by dye terminator chemistry combined with automated direct DNA sequencing.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society - 1 Jan 1998
Camacho N P, Dow D, Toledano T R, Buckmeyer J K, Gertner J M, Brayton C F, Raggio C L, Root L, Boskey A L
Abstract excerpt
The homozygous oim/oim mouse, a model of moderate-to-severe human osteogenesis imperfecta, contains a G-nucleotide deletion in the Cola-2 gene (the murine pro alpha(I) collagen gene) that results in accumulation of alpha1(I) homotrimer collagen. Although these mice have a distinctive phenotype that includes multiple fractures and deformities, genotyping is necessary to distinguish them from their wildtype (+/+)...
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