Phenotypes
Retinitis pigmentosa
No summary available.
Retinitis pigmentosa 1
Michot et al. (2016): "a one base pair insertion (Chr14: g.23995411_23995412insA) that affects the retinitis pigmentosa-1 gene (RP1) . . . [and] is predicted to cause a frameshift at codon 791 and to terminate the protein 13 amino acids later (p. R791KfsX13)".
Rhabdomyosarcoma, embryonal/congenital
No summary available.
Rhizomelic chondrodysplasia punctata, GNPAT-related
Boulling et al. (2024) "Using homozygosity mapping, whole genome sequencing of two affected individuals, and filtering for variants found in 1,867 control genomes, [the authors] reduced the list of candidate variants to a single deep intronic substitution in GNPAT (g.4,039,268G>A on Chromosome 28 of the ARS-UCD1.2 bovine genome assembly [omia.variant:1804])." The variant segregated with the disease in 21 affected animals and 26 available pa...
Rhizomelic chondrodysplasia punctata, PEX7-related — bulldog calves
No summary available.
Rickets, generic
No summary available.
Salmonellosis, resistance/susceptibility to
No summary available.
Schistosomus reflexus
Jacinto et al. (2024) "collected a series of 23 [schistosomus reflexus] SR-affected calves from four breeds (20 Holstein, one Red Danish, one Limousin, one Romagnola) and performed whole-genome sequencing (WGS). ... Sequencing-based genome-wide association studies with 20 Holstein cases and 154 controls showed no association ... . Assuming a monogenic recessive inheritance, no region of shared homozygosity was observed, suggesting heterogeneit...
Schwannomatosis
No summary available.
Scurs — Scurs, type 1
A very useful summary was provided by Gehrke et al. (2020): "With respect to scurs, the most commonly accepted model of inheritance was initially proposed by White and Ibsen [(1936)] . . . and revised by later studies [Long and Gregory, 1978; Brem et al., 1982] . . . . The model assumes that four biallelic loci interact to control the development of horns: the “symbolic” horn locus (H, which is suggested to be always present and homozygous), t...
Scurs, type 2
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.
Seminal defect
No summary available.
Serum cholesterol level
No summary available.
Sex chromosome difference of sexual development, generic
No summary available.
Sex determination
No summary available.