OMIA 001991-9913 : Stillbirth in Bos taurus
Mesbah-Uddin et al. (2017) "identified and confirmed the breakpoint of [the above] ∼525 KB deletion on Chr23:12,291,761-12,817,087 (overlapping BTBD9, GLO1 and DNAH8)".Prevalence: Wu et al. (2020) reported the frequency of a tag haplotype for this lethal effect as 4.1% in 19,309 Nordic Red Dairy cattle. Breed: Nordic Red. Associated genes:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|BTBD9||BTB (POZ) domain containing 9||Bos taurus||23||NC_037350.1 (12472847..12061843)||BTBD9||Homologene, Ensembl, NCBI gene|
|DNAH8||dynein, axonemal, heavy chain 8||Bos taurus||23||NC_037350.1 (12560530..12888873)||DNAH8||Homologene, Ensembl, NCBI gene|
|GLO1||glyoxalase I||Bos taurus||23||NC_037350.1 (12519916..12494154)||GLO1||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|Nordic Red||Stillbirth||BTBD9||deletion, gross (>20)||UMD3.1||23||"∼525 KB deletion on Chr23:12,291,761-12,817,087 (overlapping BTBD9, GLO1 and DNAH8)"||2016||27091210|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2020||Wu, X., Mesbah-Uddin, M., Guldbrandtsen, B., Lund, M.S., Sahana, G. :|
|Novel haplotypes responsible for prenatal death in Nordic Red and Danish Jersey cattle. J Dairy Sci 103:4570-4578, 2020. Pubmed reference: 32197842. DOI: 10.3168/jds.2019-17831.|
|2017||Mesbah-Uddin, M., Guldbrandtsen, B., Iso-Touru, T., Vilkki, J., De Koning, D.J., Boichard, D., Lund, M.S., Sahana, G. :|
|Genome-wide mapping of large deletions and their population-genetic properties in dairy cattle. DNA Res :, 2017. Pubmed reference: 28985340. DOI: 10.1093/dnares/dsx037.|
|2016||Sahana, G., Iso-Touru, T., Wu, X., Nielsen, U.S., de Koning, D.J., Lund, M.S., Vilkki, J., Guldbrandtsen, B. :|
|A 0.5-Mbp deletion on bovine chromosome 23 is a strong candidate for stillbirth in Nordic Red cattle. Genet Sel Evol 48:35, 2016. Pubmed reference: 27091210. DOI: 10.1186/s12711-016-0215-z.|
- Created by Frank Nicholas on 22 Apr 2016
- Changed by Frank Nicholas on 22 Apr 2016
- Changed by Frank Nicholas on 05 Apr 2018
- Changed by Frank Nicholas on 23 Mar 2020
- Changed by Imke Tammen2 on 04 Dec 2020