Phenotypes
Pseudomyotonia, congenital — Congenital pseudomyotonia
Recognising the close resemblance of this disorder in Chianina cattle to Brody disease in humans, Drögemüller et al. (2008) illustrated the power of the candidate-gene approach by showing that this disorder in Chianina cattle is due to a missense mutation in the bovine version of the "Brody gene" - ATP2A1. Interestingly, another mutation in this same gene causes a far more severe set of clinical signs: congenital muscular dystonia 1 (OMIA 0014...
Psoroptic mange, susceptibility to
No summary available.
Ptosis, intellectual disability, retarded growth and mortality (PIRM) syndrome (Haplotype AH1) — Haplotype AH1
Comparison of sequence of the 713kb candidate region (mentioned in the mapping section above) in an obligate carrier, one of its offspring, 43 members of the Fleckvieh breed (in which the disorder has never been reported) and 191 non-Fleckviehs from the 1000-bulls project revealed 2 candidate causal SNVs: a coding variant and an intronic variant of the gene UBE3B, which encodes ubiquitin protein ligase E3B, and mutations in which cause a simil...
Pulmonary adenomatosis
No summary available.
Pulmonary hypertension — High-altitude pulmonary hypertension (HAPH); bovine congestive heart failure (BCHF); ab...
No summary available.
Pulmonary hypoplasia with anasarca, ADAMTS3-related
Häfliger et al. (2020; PMID 32069517): "Whole‐genome sequencing of one case, variant filtering against controls and genotyping of a larger cohort of Cika cattle led to the detection of a likely pathogenic protein‐changing variant perfectly associated with the disease: a missense variant on chromosome 6 in ADAMTS3 (NM_001192797.1: c.1222C>T), which affects an evolutionary conserved residue (NP_001179726.1: p.(His408Tyr))"
Recombination rate
No summary available.
Rectovaginal constriction
No summary available.
Renal dysplasia — Renal tubular dysplasia (RTD); Chronic interstitial nephritis with diffuse zonal fibros...
Building on the mapping results of Kobayashi et al. (2000) (see Mapping section above), Hirano et al. (2000) did some further fine mapping, and then constructed a cosmid library of the fine-mapped region of BTA1, and then used the best cosmid clone as a probe of kidney cDNA from normal and affected animals, identifying a single cDNA, which, when sequenced, turned out to be the bovine paracellin-1 gene, which they called Claudin-16, and which l...
Repetitive behaviour
No summary available.
Resistance/susceptibility to infectious bovine keratoconjunctivitis, — pink eye
No summary available.
Resistance/susceptibility to Mannheimia haemolytica leukotoxin
Some of the resistant cattle described in this entry are genetically-modified organisms (GMO)
Respiratory disease, susceptibility/resistance to — Bovine respiratory disease
Kiser et al. (2019): "Bovine respiratory disease (BRD), a multifactorial disease caused by several viruses and bacteria, is a leading natural cause of cattle death in the United States, affecting both the beef and dairy industries (Griffin 2014; Guterbock 2014)."
Retinal degeneration
See also: OMIA:002029-9913 : Retinitis pigmentosa 1 in Bos taurus (taurine cattle)
Retinal dysplasia and internal hydrocephalus
No summary available.