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.
|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|
|Siberian Husky||Blue eyes||ALX4||duplication||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