Phenotypes

No summary available.

Sartelet et al. (2012) identified the causative mutation as a "c124-­2A>G splice variant in intron 1 of the RNF11 gene". This gene encodes RING finger protein 11, which is a key regulator in the A20 complex of the inflammatory response.

In a textbook example of how to make use of clinical information to identify a comparative candidate gene (based on the homologous human disorder) namely KRT5 (keratin 5), Ford et al. (2005) showed that this disorder in the offspring of a Friesian-Jersey bull is due to a 4051G>A base substitution in the bovine KRT5 gene, leading to an E478K amino-acid substitution. The bull turned out to be mosaic for a de novo mutation. Jacinto et al. (202...

Boussaha et al. (2023): "Homozygosity mapping followed by analysis of the whole-genome sequences of two [affected Charolais] cases and 5031 control individuals enabled us to prioritize a splice donor site of ITGA6 (c.2160 + 1G > T; Chr2 g.24112740C > A) as the most compelling candidate variant. ... RT-PCR analyses revealed increased retention of introns 14 and 15 of the ITGA6 gene in a heterozygous mutant cow compared with a matched cont...

Agerholm et al. (2017): "whole genome sequencing of a case-parent trio revealed two de novo variants perfectly associated with the disease: an intronic SNP in the DMBT1 gene and a single non-synonymous variant in the FGFR2 gene. This FGFR2 missense variant (c.927G>T) affects a gene encoding a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and across species. It is predic...

Burgstaller et al. (2016) have provided strong evidence that the FH2 frameshift mutation (see OMIA 001958-9913), namely c.771_778delTTGAAAAGinsCATC (rs379675307) in SLC2A2, is actually causative of Fanconi-Bickel syndrome in Fleckvieh cattle. Joller et al. (2018) reported the same likely causal variant in a Swiss Braunvieh calf.

Tremors and astasia, as a consequence of hypoplasia of the forelimb-girdle muscles

Eager et al. (2025): "Whole-genome sequencing of an affected calf identified a homozygous frameshift variant in the HEXA gene (NC_037337.1:g.19269480_19269481delinsGGAGT, NM_001075164.2: c.(834_835delinsACTCC)), absent from 18 control genomes and 1842 individuals in the 1000 Bull Genomes Project. The variant was confirmed in homozygous form in all four affected animals by Sanger sequencing and meets multiple criteria for pathogenicity."

By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Dennis et al. (2000) identified two causal mutations in Brahman cattle, namely a frameshifting 2-bp deletion (c.1057delTA; the "E7" mutation) and a nonsense mutation (c.1783C>T; p.Arg595Ter; the "E13" mutation) in the bovine GAA gene; and a 2-bp frameshifting deletion (c.2454delCA; the "E18" mutation) in Shorthorns.

The first occurrence of this disorder in any domestic species was reported by Angelos et al. (1995), in Charolais cattle.

The causative mutation for this disorder was discovered via the candidate gene approach. Tassi et al. (1984) reported a 10-15-fold decrease in the concentration of TG mRNA in affected cattle; Ricketts et al. (1985) reported the use of S1 nuclease assays and electron microscopy to narrow down the location of the mutation to the junction of exon 9 and intron 9; and Ricketts et al. (1987) reported the use of cloning and sequencing of genomic DNA ...

Khalaj et al. (2009): "A nucleotide substitution of T to A resulting in an amino acid substitution of leucine to histidine (p.Leu2153His) was identified in a highly conserved residue in the C1 domain of factor VIII. Genotyping of 254 normal animals including the pedigree of the affected animals and randomly sampled animals of different breeds confirmed that the substitution is the causative mutation of cattle haemophilia A." Analysis of whole-...

By sequencing the most likely functional positional candidate gene from the mapped region (see Mapping section), Littlejohn et al. (2014) identified a causal mutation as a "nonsynonymous SNP in exon 5 [that] encodes a p.Cys221Gly substitution highly conserved across vertebrates and other structurally related hormones, disrupting one of three disulphide bonds defining the three-dimensional (3D) structure of mature prolactin hormone" (ss10672894...

Häfliger et al. (2021) investigated “the two Braunvieh populations reared in Switzerland, the dairy Brown Swiss (BS) and the dual-purpose Original Braunvieh (OB). We performed a genome-wide analysis of array data of trios (sire, dam, and offspring) from the routine genomic selection to identify candidate regions showing missing homozygosity and phenotypic associations with five fertility, ten birth, and nine growth-related traits. In addition,...

Häfliger et al. (2021) investigated “the two Braunvieh populations reared in Switzerland, the dairy Brown Swiss (BS) and the dual-purpose Original Braunvieh (OB). We performed a genome-wide analysis of array data of trios (sire, dam, and offspring) from the routine genomic selection to identify candidate regions showing missing homozygosity and phenotypic associations with five fertility, ten birth, and nine growth-related traits. In addition,...