Phenotypes

Rothammer et al. (2017): "comparisons of the sequence of [the candidate] haplotype [see Genetic mapping section] with sequence data from four Braunvieh sires and the Aurochs genome identified two possible candidate causal mutations at positions 39,829,806 bp (G/A; R45Q) [omia.variant:847] and 39,864,148 bp (C/T; T444I) [omia.variant:848] that were absent in 1682 animals from various bovine breeds included in the 1000 bull genomes project. Both...

Excluding variants found in breeds that do not show this trait, Daetwyler et al. (2014) narrowed the field down to "a missense mutation in KRT27 (c.276C>G; p.Asn92Lys; g.41636961C>G on BTA19; ss699911276)". Strong supporting evidence of the causality of this mutation was found by studying its presence in numerous bulls of the Montbeliarde breed (in which the trait occurs, and which, like Fleckvieh, derives from the Simmental breed) compa...

Jacinto et al. (2023): "A trio whole-genome sequencing approach [of an affected 5 month old Wagyu calf and its parents] identified a deleterious homozygous missense variant in DGKG (p.Thr721Ile). The allele frequency in 209 genotyped Wagyu was 7.2%."