OMIA 002150-9913 : Syndrome des veaux tourneurs (Turning calves syndrome) in Bos taurus
Also, Duchesne et al. (2017) "created a mouse knock-out model and determined that disruption of this gene dramatically disturbed mitochondrial dynamics in various organs that resulted in altered metabolism and early death, indirectly confirming the gene identification in cattle."Breed: Rouge-des-Prés. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC25A46||solute carrier family 25 member 46||Bos taurus||7||NC_037334.1 (109737357..109763874)||SLC25A46||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|
|Rouge-des-Prés||Syndrome des veaux tourneurs (Turning calves syndrome)||SLC25A46||missense||UMD3.1||7||g.112337413C>T||c.376C>T||p.(R126C)||2017||28376083|
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.
|2017||Duchesne, A., Vaiman, A., Castille, J., Beauvallet, C., Gaignard, P., Floriot, S., Rodriguez, S., Vilotte, M., Boulanger, L., Passet, B., Albaric, O., Guillaume, F., Boukadiri, A., Richard, L., Bertaud, M., Timsit, E., Guatteo, R., Jaffrézic, F., Calvel, P., Helary, L., Mahla, R., Esquerré, D., Péchoux, C., Liuu, S., Vallat, J.M., Boichard, D., Slama, A., Vilotte, J.L. :|
|Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health. PLoS Genet 13:e1006597, 2017. Pubmed reference: 28376083. DOI: 10.1371/journal.pgen.1006597.|
|2011||Timsit, E., Albaric, O., Colle, M.A., Costiou, P., Cesbron, N., Bareille, N., Assié, S. :|
|Clinical and histopathologic characterization of a central and peripheral axonopathy in Rouge-des-prés (Maine Anjou) calves. J Vet Intern Med 25:386-92, 2011. Pubmed reference: 21281347. DOI: 10.1111/j.1939-1676.2010.0662.x.|
- Created by Frank Nicholas on 20 May 2018
- Changed by Frank Nicholas on 20 May 2018
- Changed by Frank Nicholas on 23 May 2018
- Changed by Frank Nicholas on 15 May 2020