Phenotypes

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

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

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

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...

Bovine hereditary zinc deficiency was first described in Friesian cattle (McPherson et al., 1964) and later in Fleckvieh (Schlerka and Baumgartner, 1976), Shorthorn (Vogt et al., 1988) and Angus cattle (Cook and Gill, 1993). A likely disease causing variant has been reported for Friesian cattle (Yuzbasiyan-Gurkan and Bartlett, 2006).

Becker et al. (2020) "detected a 50-kb deletion in the targeted chromosomal region that was in the heterozygous state in the cases’ sire" in whole genome sequencing data and "confirmed that this detected deletion segregated perfectly within the family with tetradysmelia. The deletion spanned three exons of the bovine R-spondin 2 (RSPO2) gene, which encode three domains of the respective protein."

He et al. (2024) investigated a Holstein calf with complex congenital heart defects and carpus valgus: "Genetic analysis revealed a private heterozygous missense variant in BRI3BP affecting an evolutionarily conserved residue (c.478G>A; p.Val160Ile). The variant was predicted to be deleterious and was present only in the affected calf and was absent in more than 5100 sequenced bovine genomes, including both parents, indicating a de novo ori...

In a segregation analysis of data from a breeding herd, Dolf et al. (1998) provided convincing evidence of autosomal recessive inheritance.

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...

Reynolds et al. (2021) report a FGD4 c.1671+1G>A splice donor mutation in New Zealand dairy cattle as likely causal variant for the the bodyweight QTL and Charcot Marie Tooth disease.

[FN thanks Ekkehard Schütz for feedback on an earlier version of the text on this page]

To date, all cases of this lethal disorder in cattle appear to be due to the same mutation, namely a nonsense mutation in the 5th of 9 exons of the ASS gene. Normal bovine ASS is a peptide containing 412 amino acids; the mutation occurs in the 86th codon.

By comparing whole-genome sequence of a small number of Holsteins having the trait, with sequence data from hundreds of control animals, Capitan et al. (2014) confirmed the mapping results of Lawlor et al. (2014) and identified the causal mutation as a de novo variant BTA3 g.C9479761T, which corresponds to a missense mutation p.R160C in the COPA gene that encodes coatomer protein complex, subunit alpha. By whole-genome sequencing of a Dominant...

For information relating to Bos indicus cattle see: OMIA 001199-9915 : Coat colour, extension in Bos indicus

See also: OMIA:001737-9913 : Coat colour, white spotting, KIT-related in Bos taurus (taurine cattle)