Brachyspina
Phenotype Details
- Phene ID
- 315
- Name
- Brachyspina
- Phene Name
- Haplotype HH0
- OMIA ID
- 151
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2012
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 646 | Brachyspina | 170253970 | 1 | 21 | g.20773899_20777226del | N/A | p.(V877Lfs*27) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein (black and white) (Cattle) | 39 | 9913 | http://purl.obolibrary.org/obo/VBO_0000237 |
Molecular Genetics
Using mate-pair libraries from one affected and three controls, Charlier et al. (2012) obtained around 3.4Gb of sequence from each animal. Comparison of sequence in the candidate BTA21 region "revealed a 3.3 Kb deletion removing exons 25–27 of the 37 composing the FANCI (Fanconi anemia complementation-group I) gene". Noting that the carrier frequency is far too high (up to 7.4%) to be consistent with a relatively rare autosomal recessive disorder, Charlier et al. (2012) also showed that a large proportion of affected calves die in utero. Thus this causal mutation also contributes to natural abortions and hence to reduced fertility.