Arthrogryposis, lethal syndrome
Phenotype Details
- Phene ID
- 3761
- Name
- Arthrogryposis, lethal syndrome
- Phene Name
- Lethal arthrogyposis syndrome
- OMIA ID
- 1953
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2015
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 406 | Arthrogryposis, lethal syndrome | 388269818 | 1 | 10 | NC_037337.1:g.79469727G>C | NM_001038116.2:c.211-10C>G | N/A |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Belgian Blue (Cattle) | 49 | 9913 | http://purl.obolibrary.org/obo/VBO_0000139 |
Molecular Genetics
Splicing variant 10 bp upstream of the intron1/exon 2 boundary (c211-10C>G) at position 79,814,520 (Bos taurus assembly: BosTau6/UMD3), leading to skipping of exon 2 (Sartelet et al., 2015)