Phenotypes
Coat colour, albinism, oculocutaneous type IV — In Dexter cattle: dark dun / chocolate (CD) or light dun / cream (CL)
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...
Curly coat, karakul-type — Also known as Curly coat
Excluding variants found in breeds that do not show this trait, Daetwyler et al. (2014) narrowed the field down to "a missense mutation in KRT27 (c.276C>G; p.Asn92Lys; g.41636961C>G on BTA19; ss699911276)". Strong supporting evidence of the causality of this mutation was found by studying its presence in numerous bulls of the Montbeliarde breed (in which the trait occurs, and which, like Fleckvieh, derives from the Simmental breed) compa...
Glycogen storage disease II
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.
Hypohidrotic ectodermal dysplasia, X-linked, EDA-related — Congenital hypotrichosis and anodontia defect; Ectodermal dysplasia; X-linked hypohidro...
Because of the obvious homology of this disorder with the homologous human disorder, Drögemüller et al. (2001) proposed that the bovine disorder be called by the name of its human homologue, which is now done in this catalogue. The earlier names are listed here as species-specific names [Frank Nicholas 20 June 2002].
Male subfertility, AK9-related
O’Callaghan et al. (2023) "present a detailed phenotypic and molecular characterization of an intronic variant in cattle that activates cryptic splicing of the adenylate kinase 9 (AK9) gene resulting in extreme subfertility associated with impaired sperm hyperactivation, failure of oocyte binding/penetration, and low frequency of embryo development culminating in severely compromised field fertility."