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Dog DNA testing illustration

Osteogenesis Imperfecta (OI) – Chow Chow

Code: H964

74,72 €

Sample details

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

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Short description

Osteogenesis Imperfecta (OI), 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 (OI), sometimes known as Brittle Bone Disease, is a group of skeletal disorders that result in the growth of weakened, fragile teeth and bones. This variant of the disease is found in the Chow Chow, and is caused by a dominant mutation to the gene COL1A2. Closely related variants have also been found in the Beagle and Lagotto Romagnolo.

Specifications

Breeds

Chow Chow

Gene

COL1A2

Chromosome

14

Mutation

c.936+1G>A

Organ

Skeletal system

Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Autosomal Dominant

Also known as

OI

Clinical features

The main symptom for affected dogs is bone fragility, generally presenting as a history of broken bones. Primary teeth are usually tremendously thin-walled and brittle. Reduced density of bones and teeth can be seen with radiography.

References

Pubmed ID: 29036614

Year published: 2017

Omia ID: 2112

Omia variant ID:

Turnaround information

  • 15 working days