OMIA 001868-9615 : Eye, blue in Canis lupus familiaris

In other species: rabbit

Mendelian trait/disorder: unknown

Considered a defect: no

Mapping: Via a GWAS conducted with "Embark’s custom high-density 214,661-marker platform" on 3,180 dogs comprising many breeds and mixed-breeds, and with binary phenotypic data on blue/brown eye colour gathered from owners by online survey, Deane-Coe et al. (2018) "discovered a novel association with blue eyes on chromosome 18 (P = 1.3x10-68) and used both sequence coverage and microarray probe intensity data to identify the putative causal variant: a 98.6-kb duplication directly upstream of the Homeobox gene ALX4, which plays an important role in mammalian eye development. This duplication is largely restricted to Siberian Huskies, is strongly associated with the blue-eyed phenotype (chi-square P = 5.2x10-290), and is highly, but not completely, penetrant."


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.

Edit History

  • Created by Frank Nicholas on 27 Feb 2019
  • Changed by Frank Nicholas on 27 Feb 2019