Phenotypes
Brachygnathia superior
No summary available.
Brachygnathia superior and degenerative joint disease
No summary available.
Brachygnathia, WNT10B-related
Widmer et al. (2023): "A breed specific frameshift duplication in WNT10B (rs525007739; c.910dupC; p.Arg304ProfsTer14) ... was found to be associated with a 21.5-fold increased risk of brachygnathia inferior in homozygous [Brwon Swiss] carriers."
Brachyspina — Haplotype HH0
Using mate-pair libraries from one affected and three controls, Charlier et al. (2012) obtained around 3.4Gb of sequence from each animal. Comparison of sequence in the candidate BTA21 region "revealed a 3.3 Kb deletion removing exons 25–27 of the 37 composing the FANCI (Fanconi anemia complementation-group I) gene". Noting that the carrier frequency is far too high (up to 7.4%) to be consistent with a relatively rare autosomal recessive disor...
Brucellosis, susceptibility/resistance to
No summary available.
Caprine-like generalized hypoplasia syndrome — Syndrome d'Hypoplasie Généralisée Capréoliforme. Also known as Seckel-like syndrome
Nonsense mutation: c.493C>T "at position 65,369,074 in [exon 4 of] the CEP250 gene" "that encodes the centrosomal protein C-Nap1". The mutation "solely affects centrosome cohesion". "Loss of C-Nap1-mediated centriole cohesion leads to an altered cell migration phenotype". Results and quotations from Floriot et al. (2015).
Cardiac anomaly
No summary available.
Cardiac malformation, BRI3BP-related
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...
Cardiomyopathy — Cardiomyopathy, Japanese Black cattle
Sudden death after a short period (a few minutes up to a few hours) of dyspnea accompanied by a groan, in calves usually less than 30 days old
Cardiomyopathy and woolly haircoat syndrome
No summary available.
Cardiomyopathy, dilated — Bovine hereditary cardiomyopathy; Bovine dilated cardiomyopathy
In a segregation analysis of data from a breeding herd, Dolf et al. (1998) provided convincing evidence of autosomal recessive inheritance.
Cardiomyopathy, hypertrophic
No summary available.
Casein, alpha
No summary available.
Casein, beta — A2 milk
Gallinet et al. (2013): c.245A>C; p.H82P (with respect to accession no. M55158; was previously p.H67P)
Casein, kappa
No summary available.