OMIA:000341-9940 : Epidermolysis bullosa, dystrophic in Ovis aries (sheep) |
In other species: dog , domestic cat , taurine cattle , goat
Categories: Integument (skin) phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 131705 (trait) , 131750 (trait) , 131950 (trait) , 132000 (trait) , 226500 (trait) , 226600 (trait)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: 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
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2005). OMIA:000341-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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