Phenotypes

Charlier et al. (2016): frame-shift p.Lys127Valfs∗28

In a remarkable indication of the power of whole-genome sequence analysis, Daetwyler et al. (2014) identified a causal mutation for this disorder in Holstein Friesian cattle as a missense mutation (g.32475732G>A [UMD3.1 reference sequence]; p.Gly960Arg, omia.variant:223) in the COL2A1 gene (which encodes the alpha-1 chain of type II collagen), by comparing the sequence of only two affected calves with sequence from bulls in the 1000-bull-ge...

Gutiérrez-Gil et al. (2007): c.64G>A Jolly et al. (2008): c.50_52delTTC Laible et al. (2021): "To better adapt dairy cattle to rapidly warming climates, we aimed to lighten their coat color by genome editing. ... Using gRNA/Cas9-mediated editing, we introduced a three bp deletion in the pre-melanosomal protein 17 gene (PMEL) proposed as causative variant for the semi-dominant color dilution phenotype observed in Galloway and Highland cattl...

In a conference abstract, Haton et al. (2000) reported that, by cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), they had identified a 76-bp insertion in exon 12 of the Factor XI gene as being causative of Factor XI deficiency in Holstein cattle. This discovery was fully described by Marron et al. (2004) who explained that "This insertion introduces a stop codon that results in a mature ...

Woolley et al. (2020) report clinical signs, pathology, fibroblast cell culture analysis and identification of a likely disease causing mutation for Niemann-Pick type C disease in Australian Angus/Angus-cross calves.

No summary available.