Phenotypes

Szczerbal et al. (2021) "describe an eighteen-month-old Holstein-Friesian heifer with a deformed vulva, located abdominally. The heifer showed typical signs of estrus. A comprehensive anatomical and histopathological examination revealed a blind-ended vagina and an additional section of urethra, which became a part of the shortened penis. Cytogenetic analysis showed the presence of two cell lines: 60,XX and 90,XXY."

In a large-scale study of more than 12000 Holstein cows in New York State, Detilleux et al. (1997) showed that cows with left displaced abomasum yielded substantially less milk (557 kg), and were twice as likely to have another disease.

A genome-wide CNV (copy number variation) association study of 791 Japanese Black cattle enabled Sasaki et al. (2016) to identify a "34-kb deleted-type" CNV region, identified as CNVR_322, "associated with embryonic mortality at 30-60 days after artificial insemination. The CNV harbors exon 2 to 6 of ANNEXIN A10 (ANXA10). . . . Western blot analysis showed that the CNV results in a null allele of ANXA10."

Charlier et al. (2016): nonsense (stop-gain) p.Arg64∗

Charlier et al. (2016): frameshift p.Leu38Argfs∗25

Charlier et al. (2016): deletion p.Lys1730del

Charlier et al. (2016): frame-shift p.Lys127Valfs∗28

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

Charlier et al. (2016): nonsense (stop-gain) p.Lys693∗

Charlier et al. (2016): splice-site c.826+1G>A

Charlier et al. (2016): frameshift p.Leu1227Alafs∗134

Charlier et al. (2016): nonsense (stop-gain) p.Arg527∗

Flisikowski et al. (2010) described a Finnish Ayrshire bull with an incidence of almost 50% of late abortion/stillbirth in his progeny. A half-sib linkage analysis with the BovineSNP50 BeadChip implicated the maternally imprinted PEG3 domain on chromosome BTA18. Genes in this region are not expressed when inherited from the female parent. Close examination of this region disclosed that this bull was heterozygous for a 110 kb deletion in the MI...

No summary available.

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...