OMIA 001899-9796 : Incontinentia pigmenti in Equus caballus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|IKBKG||inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma||Equus caballus||X||NC_009175.3 (126889355..126915317)||IKBKG||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.
|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|
|Quarter Horse Warmblood||Incontinentia pigmenti||IKBKG||nonsense (stop-gain)||Naturally occurring variant||EquCab3.0||X||g.126898409C>T||c.202C>T||p.(R68*)||2013||24324710||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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.
|2013||Towers, R.E., Murgiano, L., Millar, D.S., Glen, E., Topf, A., Jagannathan, V., Drögemüller, C., Goodship, J.A., Clarke, A.J., Leeb, T. :|
|A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti. PLoS One 8:e81625, 2013. Pubmed reference: 24324710. DOI: 10.1371/journal.pone.0081625.|
|2000||Smahi, A., Courtois, G., Vabres, P., Yamaoka, S., Heuertz, S., Munnich, A., Israël, A., Heiss, N.S., Klauck, S.M., Kioschis, P., Wiemann, S., Poustka, A., Esposito, T., Bardaro, T., Gianfrancesco, F., Ciccodicola, A., D'Urso, M., Woffendin, H., Jakins, T., Donnai, D., Stewart, H., Kenwrick, S.J., Aradhya, S., Yamagata, T., Levy, M., Lewis, R.A., Nelson, D.L. :|
|Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 405:466-72, 2000. Pubmed reference: 10839543. DOI: 10.1038/35013114.|
- Created by Tosso Leeb on 17 Dec 2013
- Changed by Tosso Leeb on 17 Dec 2013
- Changed by Frank Nicholas on 17 Dec 2013
- Changed by Tosso Leeb on 15 Aug 2016