S308 Herlitz-type Junctional Epidermolysis Bullosa (HJEB)

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Breed:  German Blackheaded Mutton
Sample material:  Blood EDTA, Blood Heparin, Semen, Swab, Tissue


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Herlitz-type Junctional Epidermolysis Bullosa (HJEB) is a severe and ultimately lethal tissue disorder found in the German Blackheaded Mutton sheep. The disease is caused by a recessive mutation to the gene LAMC2.


Chromosome: 12

Gene: LAMC2

Mode of Inheritance: Autosomal Recessive

Also known as: HJEB

Organ: Integumentary system

Sub-organ: Skin


Year published: 2011

Clinical Features

Onset of HJEB symptoms starts within the first few weeks of life. Affected lambs show kyphosis (arching of the back) and severe lameness; fragile and easily-detaching skin, horns and hooves; and sores in the mouth and on the tongue. Symptoms progressively worsen, and euthanasia on humane grounds is generally necessary.


Omia: 1678

Pubmed: 21573221