Genetic Test
The COL11A2 (Collagen Type XI Alpha 2 Chain) gene encodes a protein that forms part of type XI collagen, a structural component of collagen fibers.
Collagen is a critical protein that provides tensile strength and structural support in various tissues, including the skin, joints, cartilage, and muscles.
Mutations in the COL11A2 gene can disrupt normal collagen formation and have been associated with skeletal dysplasia type 2 (a form of osteochondrodysplasia), a condition affecting bone and cartilage development.
This genetic test targets a specific COL11A2 mutation linked to type 2 skeletal dysplasia.
Disease Description
Skeletal Dysplasia Type 2 (SD2) is a genetic disorder that causes mild disproportionate dwarfism, typically resulting in shortened limbs.
Affected dogs are born with legs that are shorter, thicker, and often slightly curved compared to normal. In most cases, the forelimbs are more affected than the hind limbs, leading to a noticeable difference in limb length.
While the overall height of affected dogs can vary, the condition is generally characterized by a disproportionate body structure with no severe impact on overall health or lifespan.
