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→ Skin blistering and ulcerations due to improper connection between skin and underlying tissue.

Symptoms:

  • Large ulcerating skin lesions (especially at legs and buccal mucous membranes)
  • Tooth abnormalities
  • Skin blistering
  • Hoof detachment

General Information:

  • Improper cell-cell adhesion causes skin layers to detach and blister, especially on legs and gums.
  • Symptoms are present during, or shortly after birth.
  • Lesions may cause infection and early death.
  • Affected foals are usually euthanized because of poor quality of life.
  • A different mutation causing similar symptoms is known in the American Saddlebred breed.

Inheritance: autosomal recessive

→ Animals with two copies of the variant (jeb1/jeb1) are affected. Animals with only one copy of the variant are clinically normal carriers (N/jeb1).

Possible Genotypes:

Genotype The horse is:
Effects:
N/N normal. The horse has no copies of the genetic variant causative for JEB-1 and therefore cannot pass it on to its offspring.
N/jeb1 a carrier. The horse is clinically normal. The genetic variant will be passed on to its offspring with a probability of 50%.
jeb1/jeb1 affected. The horse will not live long enough to reproduce.

 

Recommendations:

  • Carriers may be bred to normal animals (N/jeb1 x N/N) without any risk of producing affected offspring. The offspring should also be tested before breeding to determine if they are carriers or normal.
  • Breeding two carriers (N/jeb1 x N/jeb1) is not recommended due to the possibility of 25% of the offspring being affected.
  • Affected animals (jeb1/jeb1) should not be used for breeding.

Test information: This test detects the single basepair insertion in the LAMC2 gene.

Cappelli, K., Brachelente, C., Passamonti, F., Flati, A., Silvestrelli, M., Capomaccio, S.: First report of junctional epidermolysis bullosa (JEB) in the Italian draft horse. BMC Vet Res 11:55, 2015. Pubmed reference: 25889423. DOI: 10.1186/s12917-015-0374-0.

Milenkovic, D., Chaffaux, S., Taourit, S., Guerin, G.: A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds Genetics Selection Evolution 35:249-56, 2003. Pubmed reference: 12633536. DOI: 10.1051/gse:2003007

Spirito, F., Charlesworth, A., Linder, K., Ortonne, J. P., Baird, J., & Meneguzzi, G. (2002). Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse. Journal of Investigative Dermatology, 119(3), 684-691. DOI:
10.1046/j.1523-1747.2002.01852.x”

Further information is available at Online Mendelian Inheritance in Animals.

Breeds affected:

Belgian Draft
French Draft
Italian Draft

Test #: H105

Samples: Blood, Hair

Price: 35 € (net)

Time required: 7-10 days

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