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Dog DNA testing illustration

Skeletal Dysplasia 2 (SD2) – Labrador Retriever

Code: H510

74,72 €

Sample details

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

Search by our number or the laboratory number. An unmatched number is saved as a previous / external reference. No new physical sample is needed.
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Short description

Skeletal Dysplasia 2 (SD2) is a mild skeletal disorder in the Labrador Retriever that causes short-legged disproportionate dwarfism.

General information

Skeletal Dysplasia 2 (SD2) is a mild skeletal disorder in the Labrador Retriever that causes short-legged disproportionate dwarfism. It is caused by a recessive mutation to the gene COL11A2. SD2 is distinct from Oculoskeletal Dysplasia (OSD), which causes severe eye defects as well as short legs.

Specifications

Breeds

Labrador Retriever
Gene

COL11A2
Chromosome

12
Mutation

c.143G>C
Organ

Skeletal system
Specimen

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

Autosomal Recessive
Also known as

SD2

Clinical features

Affected dogs develop relatively short legs, while retaining a normal body length and width. SD2-affected leg bones are shorter and slightly more bent than those of unaffected dogs, with the front legs being more affected.

References

Pubmed ID: 23527306

Year published: 2013

Omia ID: 1772

Omia variant ID:

Turnaround information

  • 15 working days