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Dog DNA testing illustration

Osteogenesis Imperfecta (OI) – Golden Retriever

Code: H381

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Osteogenesis Imperfecta, sometimes known as Brittle Bone Disease, is a group of skeletal disorders that result in the growth of weakened, fragile teeth and bones.

General information

Osteogenesis Imperfecta, sometimes known as Brittle Bone Disease, is a group of skeletal disorders that result in the growth of weakened, fragile teeth and bones. This severe variant of the disorder, Osteogenesis Imperfecta Type III, is caused by a dominant mutation to the COL1A1 gene, and has been observed in the Golden Retriever.

Specifications

Breeds

Golden Retriever

Gene

COL1A1

Chromosome

9

Mutation

c.1276G>C

Organ

Skeletal system

Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Autosomal Dominant

Clinical features

Within the first months of life, affected puppies show reduced growth, weak and discoloured teeth (dentinogenesis imperfecta) and easily suffer bone fractures.

References

Pubmed ID: 11147834

Year published: 2000

Omia ID: 2126

Omia variant ID:

Turnaround information

  • 15 working days