Haplotype with homozygous deficiency, RNASEH2B-related
Phenotype Details
- Phene ID
- 3679
- Name
- Haplotype with homozygous deficiency, RNASEH2B-related
- Phene Name
- N/A
- OMIA ID
- 1901
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2014
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 676 | Abortion due to deletion of RNASEH2B | 388267032 | 1 | 12 | g.20007546_20691454del | N/A | N/A |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Nordic Red (Cattle) | 911 | 9913 | http://purl.obolibrary.org/obo/VBO_0016847 |
Molecular Genetics
As reported by Kadri et al. (2014), one of the genes in the deletion (see Mapping section), namely RNASEH2B, is "known to cause embryonic lethality when knocked-out in the mouse". Subsequent investigations confirmed that this deletion is a recessive embryonic lethal in cattle but "is associated with a positive effect on milk yield and composition", which results in selection favouring heterozygotes (balancing selection), thereby maintaining the lethal deletion in the population.