Phenotypes
Arthrogryposis and palatoschisis syndrome
No summary available.
Arthrogryposis multiplex congenita, AGRN-related — Bovine Hereditary Arthrogyposis Multiplex Congentia
Also known as Curly Calf Syndrome
Arthrogryposis multiplex congenita, CHRNB1-related
Agerholm et al. (2016): "a single base deletion in the first exon of CHRNB1 (c.55delG) introducing a premature stop codon (p.Ala19Profs47*) in the second exon, truncating 96 % of the protein."
Arthrogryposis multiplex congenita, generic
No summary available.
Arthrogryposis, generic
No summary available.
Arthrogryposis, lethal syndrome — Lethal arthrogyposis syndrome
Splicing variant 10 bp upstream of the intron1/exon 2 boundary (c211-10C>G) at position 79,814,520 (Bos taurus assembly: BosTau6/UMD3), leading to skipping of exon 2 (Sartelet et al., 2015)
Ascites
No summary available.
Asthenospermia
Iso-Touru et al. (2019): "Whole genome-sequencing uncovered that both asthenospermic bulls were homozygous for a mutation that disrupts a canonical 5' splice donor site of CCDC189 encoding the coiled-coil domain containing protein 189. Transcription analysis showed that the derived allele activates a cryptic splice site resulting in a frameshift and premature termination of translation. The mutated CCDC189 protein is truncated by more than 40%...
Ataxia and dyslipidemia, LIPC-related
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...
Ataxia, cerebellar, generic
No summary available.
Ataxia, generic
No summary available.
Ataxia, progressive
see OMIA:000527-9913: Hypomyelinogenesis, congenital in Bos taurus (taurine cattle) - OMIA - Online Mendelian Inheritance in Animals
Atresia ani — imperforate anus
No summary available.
Atresia coli
No summary available.
Atresia ilei
No summary available.