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H898

Dogs affected with osteochondrodysplasia (OCD) have a mutation in the SLC13A1 gene.

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Specifications

Breeds

,

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

General information

Dogs affected with osteochondrodysplasia (OCD) have a mutation in the SLC13A1 gene. Osteochondrodysplasia is a form of skeletal dwarfism, affected dogs have abnormally short legs but a normal sized body due to abnormal fetal skeletal maturation.

Clinical features

Affected pups soon develop abducted (splayed) hind limbs, enlarged joints, flattened rib cages, shortened and bent long bones, and deformed paws that resemble clubfoot. The stiffness of joints is very severe in young affected dogs but decreases with age. The mobility remains limited and arthritis is a common consequence.

Additional information

This test is based on an association study.

References

Pubmed ID: 23300579

Omia ID: 1400

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