Phenotypes

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

Weber et al. (2026) investigated an inherited neuromuscular disorder in Brown Swiss cattle. Use of whole genome sequencing resulted in the identification of a "rare homozygous missense variant in LIPC (chr10:51715800G>C; NM_001035410.1:c.924C>G; p.Phe308Leu; omia.variant:1842) ... and in-silico predictions classified this variant as deleterious. Population-level genotyping of over 20.000 BS cattle revealed a variant allele frequency of 1...

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...

Armed with the knowledge that TYRP1 in Dexter cattle is a strong positional candidate gene for the dun phenotype (see Mapping section above), Berryere et al. (2003) showed that dun brown coat colour in Dexter cattle is due to homozygosity for a H434Y amino acid substitution in TYRP1, due to "a C to T change in nucleotide 1300 within exon 7" of the TYRP1 gene. [FN 10 Sep 2005; 21 Sep 2012]. See also OMIA:001821-9913 : Coat colour, albinism, ocu...

Fontanesi  et al. (2010): "[V]ariation in the white spotting in several cattle breeds is largely influenced by the multiple allelic series at the S locus, which includes at least four alleles (Olson 1999): SH (Hereford pattern), SP (Pinzgauer pattern or lineback), S+ (non-spotted) and s (spotting pattern). The SH allele gives white face, belly, feet and tail, often with a white stripe over the shoulder when homozygous. The SP allele gives pigm...

Jacinto et al. (2025) investigated a Holstein calf with primordial disproportionate dwarfism and craniofacial dysmorphism using a whole genome sequencing approach: "A heterozygous pathogenic missense variant in exon 12 of PDGFRA [Chr6:g.69749162 T > C; c.1685 T > C; p.Ile562Thr; omia.variant:1841], which replaces residue 562, was found and might be due to a spontaneous de novo mutation. However, due to the lack of parental DNA, we could ...

Jacinto et al (2025) investigated two half-sib Angus calves with chondrodysplasia leading to primordial disproportionate dwarfism in a whole genome sequencing approach: "Assuming a dominant MOI [mode of inheritance], a heterozygous pathogenic missense variant was found in exon 6 of PRDM10 leading to an amino acid exchange in PRDM10 at position 289, located in the PR-SET domain (Chr29:g.36138136G > A; c.866C > T; p.Pro289Leu) [omia.varian...

No summary available.

Bourneuf et al. (2017) detected COL6A3 g.117453719G>A; p.T1894M; omia.variant:1184 as a de novo recessive potentially lethal mutation from an analysis of whole-genome-sequence of a Holstein AI bull. No information was provided on the descendants of this bull.

Reith et al. (2024): "Whole-genome sequencing (WGS) of 7 blind cattle and 9 unaffected relatives revealed a 1-bp frameshift deletion in ceroid lipofuscinosis neuronal 3 (CLN3; chr25 g.26043843del) for which the blind cattle were homozygous and their parents heterozygous. The identified variant in exon 16 of 17 is predicted to truncate the encoded protein (p. Pro369Argfs*8) ... ."

Building on the mapping results of Kobayashi et al. (2000) (see Mapping section above), Hirano et al. (2000) did some further fine mapping, and then constructed a cosmid library of the fine-mapped region of BTA1, and then used the best cosmid clone as a probe of kidney cDNA from normal and affected animals, identifying a single cDNA, which, when sequenced, turned out to be the bovine paracellin-1 gene, which they called Claudin-16, and which l...

Thomsen et al. (2010) showed that this disorder is due to a missense mutation (R560Q) at a site that is invariant from insects to mammals in the gene encoding spastin (SPAST or SPG4). In their table of reduced-fertility haplotypes, Cole et al. (2014) list this SPAST mutation as being the causal mutation for haplotype BHD.

Syndactyly has been reported in many breeds of cattle in many countries. Most of the documentation, however, concerns its occurrence in US Holsteins, where, as a result of the siring of more than 60,000 calves by a bull who was subsequently shown to be a carrier, the disorder attracted considerable attention (Anon., 1967). The possibility that artificial selection favouring heterozygotes may have contributed to the unacceptably high frequency ...