Phenotypes

Charlier et al. (2016): missense p.Tyr195Cys

Agerholm et al. (2016): "a single base deletion in the first exon of CHRNB1 (c.55delG) introducing a premature stop codon (p.Ala19Profs47*) in the second exon, truncating 96 % of the protein."

Rothammer et al. (2017): "comparisons of the sequence of [the candidate] haplotype [see Genetic mapping section] with sequence data from four Braunvieh sires and the Aurochs genome identified two possible candidate causal mutations at positions 39,829,806 bp (G/A; R45Q) [omia.variant:847] and 39,864,148 bp (C/T; T444I) [omia.variant:848] that were absent in 1682 animals from various bovine breeds included in the 1000 bull genomes project. Both...

This disorder is of particular interest in cattle, because it is one of the few cases in which an embryonic lethal has been identified. (By their very nature, embryonic lethals are difficult to identify; their only manifestation is a return to service.) To date, the only known cause of this disorder in cattle is a nonsense mutation in codon 405 of the UMPS gene, resulting in a complete deficiency of functional UMPS (Schwenger et al., 1993). Si...

This disorder is associated with white coat colour (Lauvergne, 1970).

Because of the obvious homology of this disorder with the homologous human disorder, Drögemüller et al. (2001) proposed that the bovine disorder be called by the name of its human homologue, which is now done in this catalogue. The earlier names are listed here as species-specific names [Frank Nicholas 20 June 2002].

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...