Junctional Epidermolysis Bullosa (Australian cattle dog)

General Information: Junctional Epidermolysis Bullosa (LAMA3) is an inherited skin disorder in dogs, characterized by fragile skin that can blister or tear with minor friction or trauma. Dogs with two copies of the LAMA3 gene mutation are predisposed to this condition, which usually manifests at a young age, often shortly after birth. Symptoms include widespread blistering, open sores, skin ulcers, and hair loss, particularly in high-friction areas such as the paws, mouth, and ears. Affected dogs may also develop lesions in the mouth and digestive tract, leading to difficulty eating and weight loss. Secondary infections are common due to exposed wounds, and in severe cases, the condition can be life-threatening. Although the condition is rare, it significantly impacts the affected dog's quality of life and requires careful management.

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 the LAMA3 gene variant can determine whether a dog is at risk of developing Junctional Epidermolysis Bullosa. This disorder is inherited in an Autosomal Recessive manner, meaning dogs must inherit two copies of the mutated gene—one from each parent—to be affected. Carrier dogs, possessing one copy of the mutation, typically do not show symptoms but can pass the mutated gene to their offspring. When two carriers are bred, each pup has a 25% chance of being affected and a 50% chance of being a carrier. Reliable genetic testing is essential for informed breeding practices, as breeding two carriers together increases the risk of producing affected puppies. Dogs that are not carriers have no increased risk of having affected offspring.