Forelimb-girdle muscular anomaly
Phenotype Details
- Phene ID
- 2843
- Name
- Forelimb-girdle muscular anomaly
- Phene Name
- N/A
- OMIA ID
- 1442
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2013
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 293 | Forelimb-girdle muscular anomaly | 388274412 | 1 | 26 | NC_037353.1:g.36627244G>A | NM_001105411.1:c.430C>T | NP_001098881.1:p.(Q144*) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Japanese Black, Japan (Cattle) | 31 | 9913 | http://purl.obolibrary.org/obo/VBO_0004987 |
Summary
Tremors and astasia, as a consequence of hypoplasia of the forelimb-girdle muscles
Molecular Genetics
By comparing sequence in the candidate region (see Mapping section above) of a carrier bull with the bovine reference sequence, Akiyama et al. (2013) identified a causal mutation as "a nucleotide substitution of C to T in exon 4 of the glial cell line derived neurotrophic factor family receptor alpha 1 (GFRΑ1) gene result[ing] in a Q144X mutation".