Epidermolysis bullosa, junctionalis, LAMA3-related
Phenotype Details
- Phene ID
- 3782
- Name
- Epidermolysis bullosa, junctionalis, LAMA3-related
- Phene Name
- N/A
- OMIA ID
- 1677
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2015
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 909 | Epidermolysis bullosa, junctionalis, LAMA3-related | 388997201 | 1 | 24 | g.32749369G>A | c.7549C>T | p.(R2517*) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Belgian Blue (Cattle) | 49 | 9913 | http://purl.obolibrary.org/obo/VBO_0000139 |
Molecular Genetics
In four Belgian Blue calves, Sartelet et al. (2015) identified the causal mutation as a nonsense mutation [c.7825C>T] "in the LAMA3 gene that creates a premature stop codon (p.Arg2609*) in exon 60, truncating 22% of the corresponding protein".