Junctional Epidermolysis Bullosa (Australian Shepherd Type)

General Information: Junctional Epidermolysis Bullosa (JEB) in Australian Shepherds manifests as a distressing skin condition where even slight friction can cause severe blisters and ulcerations. Typically evident within weeks of birth, affected areas often include the face, foot pads, and ears, with the skin around toenails prone to damage and sloughing. The disorder also affects internal mucous membranes, leading to painful blisters and ulcers in the mouth, throat, and esophagus, complicating feeding and contributing to reduced growth compared to healthy littermates. Due to severe discomfort and secondary infections, quality of life is profoundly impacted, often necessitating euthanasia at a young age.

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 Junctional Epidermolysis Bullosa (JEB) in Australian Shepherds targets mutations in the LAMB3 gene. This condition follows an autosomal recessive pattern of inheritance, meaning both parents must be carriers of the mutated gene for offspring to exhibit symptoms. Dogs carrying one copy of the gene do not show symptoms but have a 50% chance of passing the mutation to their offspring when bred with another carrier, leading to 25% of the puppies potentially being affected. To prevent the transmission of this debilitating condition, it is critical to test breeding dogs for the LAMB3 mutation. Carriers should not be bred together to avoid producing affected offspring. Utilizing genetic testing can effectively help eliminate this mutation from the breed, ensuring future generations do not suffer from this painful condition. Non-carriers do not possess the mutation and thus cannot pass the condition onto their offspring.