Breeds Affected: German Shorthaired Pointer
Samples Accepted: Blood, Buccal Swabs
Disease Information: JEB is characterized by blistering of the skin and mucous membranes due to a reduction in the amount of a protein required for connecting layers of skin. Affected dogs may also have problems with their footpads.
Inheritance Information: JEB is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.
The possible genotypes are:
N/N The dog is normal, and cannot produce affected offspring.
N/jeb The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/jeb carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
jeb/jeb The dog is affected, and if bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/jeb carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/jeb x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/jeb x N/jeb) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (jeb/jeb) should not be used for breeding.
Test Information: This test identifies an insertion in intron 35 of the LAMA3 gene.
Capt, A., Spirito, F., Guaguere, E., Spadafora, A., Ortonne, J.P., Meneguzzi, G.: Inherited junctional epidermolysis bullosa in the German Pointer: establishment of a large animal model. J Invest Dermatol 124:530-5, 2005. Pubmed reference: 15737193. DOI: 10.1111/j.0022-202X.2004.23584.x.
Further information is available at the Online Mendelian Inheritance in Animals website.