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.

Recommendations:
– 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.

Test #: D334
Cost: 35 € (excl. VAT)
Time Required: 7-10 days