Retinal dysplasia (OSD)

LABOKLIN Service ID: 8677

In the breeds Northern Inuit Dog and Tamaskan Dog, a genetic variant in the gene COL9A3 (exon 14) has been found to cause oculoskeletal dysplasia (OSD). Clinical symptoms are very similar to the symptoms that could be found at OSD affected Labrador Retrievers. In addition to short-limbed dwarfism (short limbs with a normal axial skeleton) and skeletal dysplasia, visual impairment and blindness due to retinal detachment, retinal degeneration and/or cataract are typical symptoms.

Method	sequencing
Breed list	Northern Inuit, Tamaskan
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab