S310 Junctional Epidermolysis Bullosa (JEB) – Bleu du Maine

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Breed:  Bleu du Maine
Sample material:  Blood EDTA, Blood Heparin, Semen, Swab, Tissue

10

working days

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Junctional Epidermolysis Bullosa (JEB) is a severe genetic disorder that causes the skin and mucous membranes to be extremely fragile, leading to blistering or skin erosions from minor friction or trauma. JEB is classified based on the level of skin separation and can be associated with different mutations in genes encoding proteins involved in skin structure. One specific subtype is linked to autosomal recessive mutations in the Laminin Subunit Beta 3 (LAMB3) gene, which encodes a component of the laminin-332 protein, important for the adhesion of the epidermis to the underlying dermis. This mutation is observed in the Blue du Maine breed.

Specifications

Chromosome: 12

Gene: LAMB3

Mode of Inheritance: Autosomal Recessive

Also known as: JEB

Organ: Integumentary system

Sub-organ: Skin

Species:Sheep

Year published: 2025

Clinical Features

The symptoms in sheep affected by JEB due to a LAMB3 mutation can include severe skin blistering and chronic wounds, oral lesions, and difficulty feeding due to mucous membrane damage, as well as poor general growth due to the effects of the disease on skin and overall health. Together, these factors lead to a shortened lifespan, with some animals not surviving beyond a few weeks or months due to secondary infections or failure to thrive.

References

Pubmed: 40100311