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Junctional Epidermolysis Bullosa 1 (JEB1)

35,00 

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


Instructions for ordering:

  1. Enter the information of the first horse for which you want to order the test
  2. Add to cart
  3. Go to cart to check out, or
  4. Enter the information for a second horse
  5. For sample collection follow the instructions here.
  6. You can use this template to send in hair samples.
  7. Please also send the completed order form together with the samples.

For a breeder or veterinarian discount please contact us before ordering.

Any information you include here is optional, but will be included on the certificate of results (except “Additional Info”).

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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 (JEB2) is known in the American Saddlebred breed.

Symptoms

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

Inheritance and Genotypes

→ JEB1 is an autosomal recessive hereditary disease, meaning that horses with only one copy of the genetic variant (N/jeb1) are clinically normal carriers while horses with two copies of the genetic variant (jeb1/jeb) are affected.

Genotype: The horse is: Effects:
N/N normal. The horse does not have any copies of the genetic variant causative for JEB1 and therefore cannot pass it on to any offspring.
N/jeb1 a carrier.
The horse is clinically normal. The genetic variant causative for JEB1 will be passed on to its offspring with a probability of 50%.
jeb1/jeb1 affected. The genetic variant causative for JEB1 will be passed on to all offspring. All offspring will be carriers (N/jeb1).

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.

References

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.

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