Phenotypes

Widmer et al. (2023): "A breed specific frameshift duplication in WNT10B (rs525007739; c.910dupC; p.Arg304ProfsTer14) ... was found to be associated with a 21.5-fold increased risk of brachygnathia inferior in homozygous [Brwon Swiss] carriers."

Bourneuf et al. (2017): a de novo likely causal variant is COL1A1 p.1049_1050delinsS in Fleckvieh Petersen et al. (2019): "Whole-genome sequencing revealed the presence of a missense mutation in the alpha 1 chain of collagen Type I (COL1A1), for which both calves were heterozygous. The variant resulted in the substitution of a glycine residue with serine in the triple helical domain of the protein; in this region, glycine normally occupies eve...