Junctional epidermolysis bullosa (JEB) is an autosomal recessive disorder belonging in a group of congenital blistering skin diseases. Histopathological examinations demonstrate clefting of the epidermis from the underlying dermis within or just below the basement membrane. The symptoms include mucocutaneous blistering, nail loss and enamel defects, as well as exuberant granulation tissue of the larynx and trachea resulting in severe respiratory distress. Affected dogs are often stillborn or they die early in life.
Inheritance: autosomal recessive - read more
Mutation: LAMA3 gene
Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.
Disease control: read more
DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.