Phenotypes

Flisikowski et al. (2010) described a Finnish Ayrshire bull with an incidence of almost 50% of late abortion/stillbirth in his progeny. A half-sib linkage analysis with the BovineSNP50 BeadChip implicated the maternally imprinted PEG3 domain on chromosome BTA18. Genes in this region are not expressed when inherited from the female parent. Close examination of this region disclosed that this bull was heterozygous for a 110 kb deletion in the MI...

Häfliger et al. (2021) investigated “the two Braunvieh populations reared in Switzerland, the dairy Brown Swiss (BS) and the dual-purpose Original Braunvieh (OB). We performed a genome-wide analysis of array data of trios (sire, dam, and offspring) from the routine genomic selection to identify candidate regions showing missing homozygosity and phenotypic associations with five fertility, ten birth, and nine growth-related traits. In addition,...

For eight of the nine haplotypes with a significant effect on calving rate (see Mapping section), Fritz et al. (2013) searched for causal mutations via whole-genome sequence data from 25 Holstein, 11 Montbéliarde and nine Normande bulls which had made major contributions to their breed. Specifically, they filtered "for mutations that were (a) located at+or –6 Mb from the detected haplotype (b) carried in the heterozygous state by the carrier b...

Because of the obvious homology of this disorder with the homologous human disorder, Drögemüller et al. (2001) proposed that the bovine disorder be called by the name of its human homologue, which is now done in this catalogue. The earlier names are listed here as species-specific names [Frank Nicholas 20 June 2002].

Bourneuf et al. (2017) detected ITGA3 g.37219021G>A; p.T252M as a de novo recessive potentially lethal mutation from an analysis of whole-genome-sequence of a Holstein AI bull. No information was provided on the descendants of this bull.

By sequencing a strong positional candidate gene, namely TWIST1, Capitan et al. (2011) identified a small duplication (c.148_157dup (p.A56RfsX87)) that inactivates the gene. This frameshift mutation segregates perfectly with type 2 scurs.