OMIA 001106-9913 : Axonopathy in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MFN2||mitofusin 2||Bos taurus||16||NC_037343.1 (41711459..41683883)||MFN2||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||Year Published||PubMed ID(s)||Acknowledgements|
|Tyrolean Grey||Axonopathy||MFN2||splicing||UMD3.1||16||g.42562057C>T||c.2229C>T||"This SNP is located within a putative exonic splice enhancer (ESE) and the variant allele leads to partial retention of the entire intron 19 and a premature stop codon in the aberrant MFN2 transcript"||2011||21526202||Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)|
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.
|2011||Drögemüller, C., Reichart, U., Seuberlich, T., Oevermann, A., Baumgartner, M., Kühni Boghenbor, K., Stoffel, M.H., Syring, C., Meylan, M., Müller, S., Müller, M., Gredler, B., Sölkner, J., Leeb, T. :|
|An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle. PLoS One 6:e18931, 2011. Pubmed reference: 21526202. DOI: 10.1371/journal.pone.0018931.|
|2010||Syring, C., Drögemüller, C., Oevermann, A., Pfister, P., Henke, D., Müller, S., Sölkner, J., Leeb, T., Meylan, M. :|
|Degenerative axonopathy in a Tyrolean grey calf. J Vet Intern Med 24:1519-23, 2010. Pubmed reference: 21039865. DOI: 10.1111/j.1939-1676.2010.0607.x.|
|1995||Kwiecien, J.M., Staempfli, H.R., Lach, B., Mok, T., Runstedler, M. :|
|Congenital axonopathy in a brown Swiss calf Veterinary Pathology 32:72-75, 1995. Pubmed reference: 7725602.|
|1989||Harper, PA., Healy, PJ. :|
|Neurological disease associated with degenerative axonopathy of neonatal Holstein-Friesian calves. Aust Vet J 66:143-4, 145-6, 1989. Pubmed reference: 2735893.|
- Created by Frank Nicholas on 30 May 2011
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 11 Jul 2017