S308 Herlitz-type Junctional Epidermolysis Bullosa (HJEB)
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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.
Specifications
Chromosome: 12
Gene: LAMC2
Mode of Inheritance: Autosomal Recessive
Also known as: HJEB
Organ: Integumentary system
Sub-organ: Skin
Species:Sheep
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.
References
Omia: 1678
Pubmed: 21573221