The detail information of Epidermolysis bullosa, simplex, PLEC-related
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2016
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB101 | Eurasier | 52-60cm (male) 48-56cm (female) | 23-32kg (male) 18-26kg (female) | Germany |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| PLEC | plectin | Canis lupus familiaris | Chr13 : 37980292 - 37924192 | Homologene, Ensembl, NCBI gene |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2016 |
Mauldin,E.A.,Wang,P.,Olivry,T.,Henthorn,P.S.,Casal,M.L.: :
Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant. Vet Dermatol :, 2016. Pubmed reference: 27878870 . DOI: 10.1111/vde.12394 . |