Phenotypes

Koch et al. (2013) suggested the following nomenclature: CE-0 for homozygous wild type; CE-1 for heterozygotes; and CE-2 for homozygous duplication.

In a sign of the times, Menoud et al. (2012) needed only three affected Rotes Höhenvieh calves to identify the causative mutation of this disorder as being a "SNP in the bovine COL7A1 exon 49 (c.4756C>T) . . . which causes a premature stop codon which leads to a truncated protein representing a complete loss of COL7A1 function (p.R1586*)" Independently of the above discovery, Pausch et al. (2016) discovered exactly the same likely causal va...

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...

Bourneuf et al. (2017): a de novo likely causal variant is COL1A1 p.1049_1050delinsS in Fleckvieh Petersen et al. (2019): "Whole-genome sequencing revealed the presence of a missense mutation in the alpha 1 chain of collagen Type I (COL1A1), for which both calves were heterozygous. The variant resulted in the substitution of a glycine residue with serine in the triple helical domain of the protein; in this region, glycine normally occupies eve...

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...