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Axonopathy
Phenotype Details
- Phene ID
- 17
- Name
- Axonopathy
- Phene Name
- Demetz syndrome
- OMIA ID
- 1106
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2011
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 374 | Axonopathy | 38912625 | 1 | 16 | NC_037343.1:g.41686003G>A | NM_001190270.1:c.2229C>T | N/A |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Blanco Orejinegro, Colombia (Cattle) | 1340 | 9913 | http://purl.obolibrary.org/obo/VBO_0004602 |
| Tiroler Grauvieh (Cattle) | 1349 | 9913 | http://purl.obolibrary.org/obo/VBO_0000408 |
Molecular Genetics
Drögemüller et al. (2011) identified a likely causal variant in Tyrolean Grey cattle as the synonymous c.2229C>T SNP, which "is located within a putative exonic splice enhancer (ESE) and the variant allele leads to partial retention of the entire intron 19 and a premature stop codon in the aberrant MFN2 transcript. Thus we have identified a highly unusual splicing defect, where an exonic single base exchange leads to the retention of the preceding intron."