Junctional Epidermolysis Bullosa (JEB) is an inherited blistering disorder of the skin and mucous membranes. In Australian Shepherds the symptoms occur within the first weeks of life. Symptoms include widespread ulcers of the skin, footpads, and oral mucosa. Shedding of the claws can also be observed. Histopathological examinations demonstrate clefting of the epidermis from the underlying dermis within or just below the basement membrane. Because of the similar phenotypes with other EB diseases, JEB cannot be diagnosed with clinical sings alone, but additional methods need to be used. A mutation in LMAB3 gene was linked to JEB in Australian Shephard.
Inheritance: autosomal recessive - read more
Mutation: LAMB3 gene
Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.