Osteogenesis Imperfecta (OI Golden Retriever)
In osteogenesis imperfecta (brittle bone disease - OI) there is a reduction and malformation in the synthesis of collagen, which is a main component of bone. As a result, affected animals have brittle bones and teeth and unusually elastic joints.
The disease occurs in the Golden Retriever and is caused by a mutation in the COL1A1 gene. The inheritance is autosomal dominant.
Genetic Test: This test cannot currently be ordered from Generatio.
Symptoms
- Brittle bones and teeth
- Unusually elastic joints
- Restricted movement (due to frequent bone fractures etc.)
General Information
In osteogenesis imperfecta (brittle bone disease - OI) there is a reduction and malformation in the synthesis of collagen, which is a main component of bone.
Breeds affected
Golden Retriever
Test Information
This mutation test detects a change of a single base pair (c.1276G>C) in the COL1A1 gene.
This test cannot currently be ordered from Generatio.
Genotype and Lab Report
Inheritance: autosomal dominant
→ The disease occurs if one or both copies of the gene are affected by the mutation (n/OI or OI/OI).
Genotypes:
n/n = genetically normal
The dog has no predisposition for OI and therefore cannot pass it on to its offspring.
n/OI = affected
The causative mutation is passed on 50% to the offspring.
OI/OI = affected
The variation is passed on 100% to the offspring.
Recommendations
Affected animals (n/OI, OI/OI) should be excluded from breeding.
Literature
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 imperfectaArchives of Biochemistry & Biophysics 384:37-46, 2000. Pubmed reference: 11147834.
Further information is available at Online Mendelian Inheritance in Animals.