OMIA:000341-9940 : Epidermolysis bullosa, dystrophic in Ovis aries (sheep)
Categories: Integument (skin) phene
Links to MONDO diseases: No links.
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.
Cite this entry
|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 .|
- Created by Frank Nicholas on 06 Sep 2005