Phenotypes
Aneuploidy, trisomy, sex chromosome XXY
No summary available.
Anhidrotic ectodermal dysplasia, EDAR-related
Bourneuf et al. (2017): a de novo likely causal variant in Charolais is single-base insertion in EDAR, resulting in a frameshift variant g.44462236_44462237insC; p.P161RfsX97
Ankylosis, generalised
No summary available.
Ankylosis, jaw
No summary available.
Anogenital distance
No summary available.
Anophthalmia/microphthalmia
No summary available.
Anophthalmos
No summary available.
Anotia
No summary available.
Aortic valve hypoplasia
No summary available.
Aplasia segmentalis ductus wolffii
No summary available.
Aprosopia
No summary available.
Arachnomelia, generic
No summary available.
Arachnomelia, MOCS1-related
Building on their 2009 mapping results, Buitkamp et al. (2011) showed that this disorder in Simmental cattle is due to a 2-bp deletion in the MOCS1 gene. This gene encodes two peptides (MOCS1A and MOCS1B) via consecutive open reading frames. These two peptides are involved in the synthesis of molybdenum cofactor (Moco), which is involved in the synthesis of sulphite oxidase, the gene for which (SUOX) is the site of the mutation for the same di...
Arachnomelia, SUOX-related
Having a good idea of the map location of the gene responsible for this disorder in Brown Swiss cattle, Drögemüller et al. (2010) used sequence capture followed by resequencing to identify a single base insertion in the gene for sulfite oxidase (SUOX) as being causative for this disorder in this breed. The synthesis of sulfite oxidase is dependent upon molybdenum cofactor (Moco), whose synthesis is dependent upon two peptides (MOCS1A and MOCS1...
Arnold-Chiari malformation — Congenital syndromic Chiari-like malformation
Jacinto et al. (2024) "collected a series of 14 CSCM[congenital syndromic Chiari-like malformation]-affected Holstein calves (13 purebred, one Red Danish Dairy F1 cross) and performed whole-genome sequencing (WGS). ... filtering for protein-changing variants that were only homozygous in the genomes of the individual cases allowed the identification of two missense variants affecting different genes, SHC4 in case 4 in group 1 and WDR45B in case...