Perinatal weak calf syndrome
Phenotype Details
- Phene ID
- 3542
- Name
- Perinatal weak calf syndrome
- Phene Name
- N/A
- OMIA ID
- 1817
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2013
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 204 | Perinatal weak calf syndrome | 388267308 | 1 | 8 | NC_037335.1:g.83909754C>G | NM_001101069.2:c.235G>C | NP_001094539.1:p.(V79L) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Japanese Black, Japan (Cattle) | 31 | 9913 | http://purl.obolibrary.org/obo/VBO_0004987 |
Molecular Genetics
Exome sequencing in the candidate region (see Mapping section) of 2 affected, one carrier and one homozygous normal animal enabled Hirano et al. (2013) to identify the causal mutation as a missense mutation (c.235G>C; p.Val79Leu) in the IARS gene which encodes isoleucyl-tRNA synthetase. Hirano et al. (2016) reported that "the [above] homozygous IARS mutation not only causes calf death, but also embryonic or fetal death.