Osteogenesis Imperfecta, OI (Golden Retriever type)

Gene: COL1A1

Transmission: Autosomal dominant

For an autosomal dominant genetic disease, an animal must have at least one copy of the mutation in question to be at risk of developing the disease.  Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the disease than animals with just one copy of the mutation.  One or both of the parents of an animal with the mutation has one or two copies of the mutation.  Animals that have one or two copies of the mutation can pass the mutation on to future generations.

Mutation: Substitution, COL1A1 gene; c.1145 G>C, p.(G382A), exon18

Medical system: Skeletal

Breeds: Golden Retriever

Age at onset of clinical signs: by 12 weeks

Osteogenesis imperfecta is a disease that affects the synthesis of collagen, a structural protein that makes up bones and ligaments. Symptoms appear within the first three monts of age and include stunted growth, joint pain, lameness, fragile and broken bones, loose joints and brittle teeth.  This mutation is dominant and has been reported in one animal of the Golden retriever breed.  Thus it can be considered of academic interest but in practical terms is not of concern to the general Golden Retriever population.

References:

OMIA link: [2126-9615]

Campbell BG, Wootton JA, MacLeod JN, Minor RR. (2000) Sequence of normal canine COL1A1 cDNA and identification of a heterozygous alpha1(I) collagen Gly208Ala mutation in a severe case of canine osteogenesis imperfecta. Arch Biochem Biophys. 384(1):37-46. [pubmed/11147834]