Osteogenesis imperfecta (OI) in Beagles

Osteogenesis imperfecta is an inherited connective tissue disease characterized by extreme bone fragility that leads to numerous fractures.

In beagles, this disease is caused by a mutation in the COL1A2 gene, which encodes a type I collagen protein. As a result of the mutation, nucleotides 3991-3994 (CTAG) are replaced by the sequence TGTCATTGG, resulting in a shift in the reading frame, a change of 30 amino acids and premature introduction of the stop codon.

Inheritance of the mutation is autosomal dominant. This means that it only takes one copy of the mutated gene inherited from one parent to cause symptoms of the disease. A genetic test can clearly reveal the genotype of an animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

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Reference:

Campbell, B.G., Wootton, J.A.M., Macleod, J.N., Minor, R.R. : Canine COL1A2 mutation resulting in C-terminal truncation of pro-alpha 2(I) and severe osteogenesis imperfecta Journal of Bone & Mineral Research 16:1147-1153, 2001. Pubmed reference: 11393792.