Phenotypes

In a remarkable indication of the power of whole-genome sequence analysis, Daetwyler et al. (2014) identified a causal mutation for this disorder in Holstein Friesian cattle as a missense mutation (g.32475732G>A [UMD3.1 reference sequence]; p.Gly960Arg, omia.variant:223) in the COL2A1 gene (which encodes the alpha-1 chain of type II collagen), by comparing the sequence of only two affected calves with sequence from bulls in the 1000-bull-ge...

Jacinto et al (2025) investigated two half-sib Angus calves with chondrodysplasia leading to primordial disproportionate dwarfism in a whole genome sequencing approach: "Assuming a dominant MOI [mode of inheritance], a heterozygous pathogenic missense variant was found in exon 6 of PRDM10 leading to an amino acid exchange in PRDM10 at position 289, located in the PR-SET domain (Chr29:g.36138136G > A; c.866C > T; p.Pro289Leu) [omia.varian...

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Besnard et al. (2023) "present a data-mining framework designed to detect recessive defects in livestock that have been previously missed due to a lack of specific signs, incomplete penetrance, or incomplete linkage disequilibrium. This approach leverages the massive data generated by genomic selection. Its basic principle is to compare the observed and expected numbers of homozygotes for sliding haplotypes in animals with different life histo...

This was one of the first inherited lysosomal storage disorders to be studied extensively in animals. The pioneering work was done by Jolly and colleagues at Massy University in New Zealand, who developed an enzyme assay that enabled carriers to be distinguished from homozygote normals with a high degree of accuracy (Jolly et al., 1973). More than twenty years later, following the cloning and characterisation of the human gene for alpha mannos...