OMIA 002557-9913 : Leber hereditary optic neuropathy in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ND4L||NADH dehydrogenase subunit 4L||Bos taurus||MT||NC_006853.1 (10239..10535)||ND4L||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|
|1469||Slovenian Cika||Leber optic neuropathy||ND4L||missense||Naturally occurring variant||m.10432T>C||Novosel et al. (2022): "two “mutant” Cika cattle animals (GenBank acc. Nos. MZ901663 and MZ MZ901663)"||2019||Reference not in PubMed; see OMIA 002557-9913 for reference details|
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.
|2022||Novosel, D., Brajković, V., Simčič, M., Zorc, M., Svara, T., Cakanic, K.B., Jungić, A., Logar, B., Cubric-Curik, V., Dovc, P., Curik, I. :|
|The Consequences of Mitochondrial T10432C Mutation in Cika Cattle: A "Potential" Model for Leber's Hereditary Optic Neuropathy. Int J Mol Sci 23:, 2022. Pubmed reference: 35683014. DOI: 10.3390/ijms23116335.|
|2019||Novosel, D., Cubric-Curik, V., Simicic, M., Dovc, P., Curik, I. :|
|Two detrimental mutations in cattle mitogenome indicate the presence of Leber’s hereditary optic neuropathy. Journal of Central European Agriculture 20:19-24, 2019. DOI: 10.5513/JCEA01/20.1.2413.|
- Created by Frank Nicholas on 18 Jul 2022
- Changed by Frank Nicholas on 18 Jul 2022