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Junctional epidermolysis bullosa (JEB) is a hereditary mechanobullous skin disease in humans and animals. A Herlitz type JEB was identified in German Black Headed Mutton (BHM) sheep and affected lambs were reproduced in a breeding trial. Affected lambs showed skin and mucous membranes blistering and all affected lambs died within the first weeks of life. The pedigree data were consistent with a monogenic autosomal recessive inheritance. Immunofluorescence showed a reduced expression of laminin 5 protein which consists of 3 subunits encoded by the genes  LAMA3 ,  LAMB3  and  LAMC2 . We screened these genes for polymorphisms. Linkage and genome-wide association analyses identified  LAMC2  as the most likely candidate for HJEB. A two base pair deletion within exon 18 of the  LAMC2  gene (FM872310:c.2746delCA) causes a frameshift mutation resulting in a premature stop codon (p.A928*) 13 triplets downstream of this mutation and in addition, introduces an alternative splicing of exon 18  LAMC2 . This deletion showed a perfect co-segregation with HJEB in all 740 analysed BHM sheep. Identification of the  LAMC2  deletion means an animal model for HJEB is now available to develop therapeutic approaches of relevance to the human form of this disease.

A Frameshift Mutation within LAMC2 Is Responsible for Herlitz Type Junctional Epidermolysis Bullosa (HJEB) in Black Headed Mutton Sheep