Phenotypes

Charlier et al. (2016): missense p.Tyr195Cys

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...

Based on strong evidence from Swiss Holsteins, Häfliger et al. (2022) reported PCDH15; c.2599C>G as a likely causal variant for this harmful haplotype.

Besser et al. (1990) reported a congenital syndrome of long, thin limbs, severe joint and tendon laxity, microspherophakia, ectopia lentis, heart murmurs and aortic dilatation in 7 calves, where all sired by a single phenotypically normal bull suspected of germline mosaicism for a new mutation resulting in this disease. One of the calves died with ruptured aorta at age 16 months. Histopathologic and electron microscopic studies of the aortic m...

The absence of horns (polledness) is of substantial benefit in cattle, from an economic and welfare point of view: bruising due to horns is eliminated, and the stress associated with de-horning is avoided. (Information complied by Ulrika Tjälldén and Vanja Kinch, Uppsala, March 1998). In addition to naturally occurring variants for this trait, variants have been created artificially: Genetically-modifed organism; GMO.