Phenotypes
Perinatal weak calf syndrome
Exome sequencing in the candidate region (see Mapping section) of 2 affected, one carrier and one homozygous normal animal enabled Hirano et al. (2013) to identify the causal mutation as a missense mutation (c.235G>C; p.Val79Leu) in the IARS gene which encodes isoleucyl-tRNA synthetase. Hirano et al. (2016) reported that "the [above] homozygous IARS mutation not only causes calf death, but also embryonic or fetal death.
Periodic spasticity, inherited (redundant)
No summary available.
Peromelia
No summary available.
Perosomus elumbis
Jacinto et al. (2020) reported a "stillborn purebred Holstein male calf" with a "form of bovine achondrogenesis type II [OMIA 001926-9913] that occurred in combination with the perosomus elumbis (PE)" likely caused by a 6679bp deletion in the COL2A1 gene. This led them to "postulate the COL2A1 gene as a possible candidate gene for PE in cattle".
Persistent frenulum praeputii
No summary available.
Persistent truncus arteriosus
No summary available.
Persistent truncus arteriosus with ventricular septal defect and patent foramen ovale
No summary available.
Persistent truncus arteriosus, GATA6-related
Besnard et al. (2023) monitored “sire-family calf mortality within the French and Walloon Holstein populations, and ... [used] this information to detect genetic defects that might have been overlooked by lack of specific symptoms. … After outlining the 5 worst bulls per category, [the authors] ... paid particular attention to the bulls Mo and Pa, because they were half-brothers. Using a battery of approaches, including necropsies, karyotyping...
Phalanges, reduced
No summary available.
Placenta, retained
No summary available.
Platelet function defect
No summary available.
Polled and multisystemic syndrome
Genotyping of the three affected daughters with a 777,000 SNP chip, combined with whole-genome sequencing of one of the affected daughters, enabled Capitan et al. (2012) to identify the causative mutation as a 3.7Mb deletion encompassing the genes ARHGAP15, GTDC1 and ZEB2. Comparison with the homologous human disorder (see MIM entry above) implied that the syndrome is primarily due to the deletion of ZEB2. Gerhke et al. (2020) identified "an 1...
Polled/Horns — Haplotype BHP; Haplotype HHP; Haplotype JHP
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.
Polycystic kidney disease
No summary available.
Polycythemia
No summary available.