Junctional Epidermolysis Bullosa (JEB Dog)

• Skin lesions and blistering after irritation, but also spontaneously
• Healing often with scarring, increasing scarring of the skin
• Problems with their footpads and thus walking

• Junctional Epidermolysis Bullosa (JEB) is a skin disease caused by a lack of connection between the individual skin layers.
• A mutation leads to the malformation of a type of collagen which is an important factor for anchoring individual skin layers ( basal membrane in the dermis).
• Affected animals have a greatly reduced quality of life and, depending on the severity, have to be euthanised.

This mutation test shows an insertion (4818+207ins6.5 kb) in intron 35 of the VWF gene.

Test im Shop

Inheritance: autosomal recessive

→ The disease only occurs when both alleles of the gene are affected by the mutation (jeb/jeb). Dogs that have only one allele with the causative mutation (N/jeb) are clinically healthy carriers.

Genotypes:

N/N = genetically normal

The dog has no variants for JEB and thus cannot pass it on to offspring.

N/jeb = a carrier

The dog is a clinically healthy carrier. The variation is passed on 50% to the offspring, which are also carriers.

jeb/jeb = affected

The variation will be passed on to 100% to the offspring, which will be carriers or affected.

• Carrier animals can be bred to normal animals (N/jeb x N/N). Before using the offspring in breeding, it should be tested whether they are normal or carriers.
• Mating two carrier animals (N/jeb x N/jeb) should be avoided because there is a 25% chance that the offspring will be affected.
• Affected animals (jeb/jeb) should be excluded from breeding.

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: Online Mendelian Inheritance in Animals.