OMIA 001868-9615 : Eye, blue in Canis lupus familiaris
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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|
|1129||Siberian Husky||Blue eyes||ALX4||duplication||Naturally occurring variant||CanFam3.1||18||g.44791414_44890185dup||Deane-Coe et al. (2018): "a 98.6-kb duplication directly upstream of the Homeobox gene ALX4"||2018||30286082||g. coordinates kindly provided by Anna Letko and Cord Drögemüller (7th Oct 2019)|
|2018||Deane-Coe, P.E., Chu, E.T., Slavney, A., Boyko, A.R., Sams, A.J. :|
|Direct-to-consumer DNA testing of 6,000 dogs reveals 98.6-kb duplication associated with blue eyes and heterochromia in Siberian Huskies. PLoS Genet 14:e1007648, 2018. Pubmed reference: 30286082. DOI: 10.1371/journal.pgen.1007648.|
- Created by Frank Nicholas on 27 Feb 2019
- Changed by Frank Nicholas on 27 Feb 2019
- Changed by Frank Nicholas on 07 Oct 2019
- Changed by Frank Nicholas on 12 Jun 2020