Figure 3. EDNRA associated copy number variation in Boer goats with coat color differences.

(A) Electropherograms of the EDNRA c.385A > G missense mutation (rs636671976). The solid-colored Boer goats shown at the bottom are homozygous A/A (wildtype). Note the different relative peak size of two SNP alleles in the four other goats. (B) Representative pictures of Boer goats with variable copy numbers of the CNV. (C) The green arrow indicates the ancestral genomic segment from position 9’562’751 to 10’597’077 on chromosome 17 containing the wildtype EDNRA A-allele (¹²⁹Tyr). The black arrow indicates the duplicated and inverted mutant copy of this segment containing the EDNRA G-allele (¹²⁹His). The grey box indicates an additional third copy of the CNV. (D) CNV copy numbers for 358 Boer goats and 77 controls analyzed with droplet digital PCR (ddPCR). Note the correlation of increasing white with increasing CNV copy number as illustrated by representative photos in (B).