Osteogenesis imperfecta type 3 in Golden Retrievers

Osteogenesis imperfecta type 3 (OI) is a connective tissue disease characterized by thinning of the bones, leading to multiple fractures of the long bones and ribs. Clinical manifestations appear in puppies as young as a few weeks old.

The disease in golden retrievers is caused by a G to C point mutation in the COL1A1 gene (c.1145G>C), which disrupts the structure of type 1 collagen, the most abundant type of collagen in connective tissues.

Inheritance of the mutation is autosomal dominant. This means that one copy of the mutated gene inherited from one parent is enough 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. :  Sequence of normal canine COL1A1 cDNA and identification of a heterozygous alpha 1(I) collagen Gly208Ala mutation in a severe case of canine osteogenesis imperfecta Archives of Biochemistry & Biophysics 384:37-46, 2000. Pubmed reference: 11147834.