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): "A Holstein heifer ... was clinically diagnosed with scoliosis of the caudal vertebra (“crooked tail”), thoracic scoliosis, and skull dysplasia. The [whole genome sequencing based] trio-approach identified a heterozygous missense variant in exon 5 of SLC40A1, affecting the ferroportin-1 domain of SLC40A1 (Chr2:g.6785954 T > A; c.323 T > A; p.Ile108Asn) [omia.variant:1839]. The pathogenic variant most likely arose p...

Jacinto et al. (2026): "Genetic analysis [of two affected Angus calvse] identified a private homozygous missense variant [omia.variant:1852] in the bovine CACNA2D2 gene (XP_024839037.1:p.(Cys395Arg)), which is linked to neurological disorders in other species, including a form of cerebellar atrophy in humans."

By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Kunieda et al. (1999) identified a missense mutation (A to G) in the bovine LYST gene, producing an amino-acid substitution of histidine to arginine (H2015R) in the resultant peptide.

Within the mapped candidate region (see Mapping section), Fritz et al. (2018) identified a likely causal variant as "an A-to-G transition at position 29,773,628 bp on chromosome 16 (g.29773628A>G; rs434666183)". The authors explained that "This A-to-G transition changes the initiator ATG (methionine) codon to ACG because the gene is transcribed on the reverse strand. . . . Initiation of translation at the closest in-frame Met codon would tr...

Bourneuf et al. (2017) detected FAM189A1 g.28644665T>C; p.N192S as a de novo recessive potentially lethal mutation from an analysis of whole-genome-sequence of a Montbéliarde AI bull. No information was provided on the descendants of this bull.

Besser et al. (1990) reported a congenital syndrome of long, thin limbs, severe joint and tendon laxity, microspherophakia, ectopia lentis, heart murmurs and aortic dilatation in 7 calves, where all sired by a single phenotypically normal bull suspected of germline mosaicism for a new mutation resulting in this disease. One of the calves died with ruptured aorta at age 16 months. Histopathologic and electron microscopic studies of the aortic m...

Woolley et al. (2020) report clinical signs, pathology, fibroblast cell culture analysis and identification of a likely disease causing mutation for Niemann-Pick type C disease in Australian Angus/Angus-cross calves.

Jacinto et al. (2025) investigated two aborted half-sib Stabiliser calves with osteogenesis imperfecta. Whole genome sequencing identified a likely "heterozygous missense variant in exon 21 of [the functional candidate gene] COL1A2, located in the triple-helical region (Chr4:g.11792118G > A; c.1156G > A; p.Gly386Arg) [omia.variant:1837]. ... The variant may be a de novo mutation inherited from a germinal mosaic sire."