OMIA 000341-9940 : Epidermolysis bullosa, dystrophic in Ovis aries

In other species: dog , domestic cat , cattle , goat

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 131705 , 131750 , 131950 , 132000 , 226500 , 226600

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Cross-species summary: Blisters on the outer layer of skin.

Species-specific description: Bruckner-Tuderman et al. (1991) showed that the occurrence of an autosomal recessive form of this disorder in a flock of Weiss Alpenschaf sheep from Switzerland was due to a deficiency of collagen VII.

Reference


1991 Bruckner-Tuderman, L., Guscetti, F., Ehrensperger, F. :
Animal Model for Dermolytic Mechanobullous Disease - Sheep with Recessive Dystrophic Epidermolysis Bullosa Lack Collagen- VII Journal of Investigative Dermatology 96:452-458, 1991. Pubmed reference: 2007783.

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  • Created by Frank Nicholas on 06 Sep 2005