Skeletal Dysplasia 2

General Information: Skeletal Dysplasia 2 (SD2) is a genetic disorder affecting Labrador Retrievers, characterized by a mild form of disproportionate dwarfism. Dogs with SD2 typically have shorter, thicker, and slightly curved leg bones, with the front legs often being more affected than the rear. Despite these changes in leg structure, the body length and width remain normal, and joints and eyes are usually unaffected. The severity of the condition can vary, and some mildly affected dogs might still fall within the breed's standard height range, especially in lines known for larger dogs. The condition can be challenging to diagnose based solely on physical appearance due to its variable expression and incomplete penetrance, meaning not all dogs with the genetic mutation will show obvious signs of dwarfism.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Skeletal Dysplasia 2 (SD2) in Labrador Retrievers involves screening for mutations in the COL11A2 gene. SD2 is inherited in an autosomal recessive manner, meaning a dog must inherit two copies of the mutated gene (one from each parent) to develop the condition. Carrier dogs, which have one copy of the mutation, do not exhibit symptoms but can pass the gene to their offspring. When two carriers are bred, there is a 25% chance of producing affected puppies and a 50% chance of producing carriers. Genetic testing is crucial for responsible breeding practices, allowing breeders to identify carriers and avoid mating them with other carriers. This helps prevent the birth of affected puppies and promotes the health and genetic diversity of future generations. By ensuring that at least one parent in a breeding pair does not carry the mutation, breeders can significantly reduce the risk of SD2 in their litters.