OMIA:001106-9913 : Axonopathy in Bos taurus
Categories: Nervous system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 608507 (gene) , 609260 (trait) , 617087 (trait) , 601152 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2011
Species-specific name: Demetz syndrome
Molecular basis: Drögemüller et al. (2011) identified a likely causal variant in Tyrolean Grey cattle as the synonymous c.2229C>T SNP, which "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. Thus we have identified a highly unusual splicing defect, where an exonic single base exchange leads to the retention of the preceding intron."
|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|
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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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|374||Tirolean gray cattle (Cattle)||Axonopathy||MFN2||splicing||Naturally occurring variant||ARS-UCD1.2||16||g.41686003G>A||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.
|2021||Caivio-Nasner, S., López-Herrera, A., González-Herrera, L.G., Rincón, J.C. :|
|Frequency of genotypic markers for genetic disorders, colour, polledness, and major genes in Blanco Orejinegro cattle. Trop Anim Health Prod 53:546, 2021. Pubmed reference: 34779908 . DOI: 10.1007/s11250-021-02990-y.|
|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
- Changed by Imke Tammen2 on 24 Nov 2021