Junctional Epidermolysis Bullosa (JEB)

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Junctional Epidermolysis Bullosa
(JEB1 and JEB2)

Description:

Junctional Epidermolysis Bullosa (JEB) is an inherited disease also known as Red Foot Disease or Hairless Foal Syndrome. Variations of the disorder affect Belgian Draft horses, American Saddlebred horses and relatives of these breeds.


This inherited disorder is caused by a mutation that inhibits the body's ability to produce certain proteins responsible for holding the skin onto the body. Affected horses are typically born alive with little symptoms. However, after 4 to 5 days of age the foal begins to develop lesions at the pressure points. These lesions quickly grow larger, creating patches all over the foal's body. Because the same protein responsible for skin adhesion is also involved in the hoof attachment, the foal also beings to lose the hoof wall and the hoof may detach. Oral ulcers are also seen with JEB, as well as foals being born with front teeth.


Unfortunately, there is not a cure of JEB. As the condition worsens, the foal will begin to develop severe infections, as well as suffer from increasing pain and discomfort. Foals often die from these infections, or are euthanized within 3-8 days from birth for humane reasons.


JEB is an autosomal recessive trait, meaning a foal can only be affected if the foal inherits the disease from both parents. Parents that are carriers do not have any symptoms associated with JEB. However, they can still pass on a copy of the defective gene to their offspring.


Animal Genetics offers DNA testing for both the JEB1 mutation found in French, Belgian Draft horses and the JEB2 mutation found in American Saddlebred horses.

Breeds Affected:

JEB1 mutation found in French, Belgian Draft horses, and the JEB2 mutation found in American Saddlebred horses.

Test Results:

Animal Genetics offers DNA testing for Junctional Epidermolysis Bullosa (JEB). The genetic test verifies the presence of the recessive JEB Gene and presents results as one of the following:

JEB1:

J1/J1 Affected The horse carries two copies of the JEB1 mutation and is homozygous for JEB1. The horse is affected with the JEB genetic disorder associated with your breed.
n/J1 Carrier Both the normal and JEB1 alleles were detected. Horse tested heterozygous for JEB1 and is a carrier of the JEB mutation associated with your breed.
n/n Clear Horse tested negative for JEB1 and does not carry the JEB1 gene mutation. The horse will not pass on the defective gene to its offspring.

JEB2:

J2/J2 Affected The horse carries two copies of the JEB2 mutation and is homozygous for JEB2. The horse is affected with the JEB genetic disorder associated with your breed.
n/J2 Carrier Both the normal and JEB2 alleles were detected. Horse tested heterozygous for JEB2 and is a carrier of the JEB mutation associated with your breed.
n/n Clear Horse tested negative for JEB2 and does not carry the JEB2 gene mutation. The horse will not pass on the defective gene to its offspring.

    Submit a Sample for Testing:

    To submit a sample for testing please click on ORDER and download a sample submission form. Then follow the sample collection and submission instructions.

     

    Cost per sample is $45.00. Please see our Equine Fee Schedule for all equine testing rates.