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