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 (trait)
,
131750 (trait)
,
131950 (trait)
,
132000 (trait)
,
226500 (trait)
,
226600 (trait)
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. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005