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Dog DNA testing illustration

Osteogenesis Imperfecta (OI) – Dachshund

Code: H431

74,72 €

Sample details

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

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Short description

Osteogenesis Imperfecta (OI), also known as Brittle Bone Disease, is a hereditary disease and is characterised by extremely fragile bones and teeth.

General information

Osteogenesis Imperfecta (OI), also known as Brittle Bone Disease, is a hereditary disease and is characterised by extremely fragile bones and teeth. Defects in the structure of the collagen leads to Osteogenesis Imperfecta.

This variant of OI, found in the Dachshund, is caused by a recessive mutation to the gene SERPINH1.

Specifications

Breeds

Dachshund
Gene

SERPINH1
Chromosome

21
Mutation

c.977T>C
Organ

Skeletal system
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

OI

Clinical features

This disease is characterised by extremely fragile bones and teeth. It is sometimes also accompanied by other complications like blue sclera, hearing loss, dwarfism and discoloured teeth.

References

Pubmed ID: 19629171

Year published: 2009

Omia ID: 1483

Omia variant ID:

Turnaround information

  • 15 working days