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Horse DNA testing illustration

Junctional Epidermolysis Bullosa (JEB, LAMC2-related) – Horse

Code: P735

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Epidermolysis bullosa (EB) consist of a group of heterogeneous heritable disorders, among which Junctional epidermolysis bullosa (JEB), characterised by blisters formed at sites of minor friction or trauma.

General information

Epidermolysis bullosa (EB) consist of a group of heterogeneous heritable disorders, among which Junctional epidermolysis bullosa (JEB), characterised by blisters formed at sites of minor friction or trauma.

Specifications

Breeds

Breton, Comtois, Italian Heavy Draft, Belgian draught
Gene

LAMC2
Chromosome

5
Mutation

c.1368insC
Organ

Integumentary System
Specimen

Hair, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive

Clinical features

Affected horses can show lesions at birth, have erosions, ulceration and atrophic skin, with pigmentation and alopecia on the face, trunk and extremities, together with dystrophic nails. The characteristic blistering of the skin and mucous membranes is caused by tissue separation within the lamina lucida of the basement membrane zone at the dermal–epidermal junction. Affected animals may die soon after birth as a result of lack of ability to suckle.

References

Pubmed ID: 12230513

Year published: 2002

Omia ID: 1678

Omia variant ID:

Turnaround information

  • 15 working days