Phenotypes
Chondrodysplasia, FGFR3-related
Whole-genome sequencing of an affected calf and both its parents, followed by filtering of variants, enabled Häfliger et al. (2020) to identify a stop-lost mutation in FGFR3 as the likely causal variant, namely g.116,767,863C>A; NM_174318.3: c.2408G>T; [XM_024992994.1: p.(Ter803Leuext*93), which is "predicted to extend the sequence at the C‐terminal end with 93 additional amino acids". This variant resulted from a de novo mutation in the...
Chondrodysplasia, generic
Information previously listed here relating the chondrodysplasia caused by mutations in the EVC2 (also called limbin) gene has been moved to 'OMIA:002540-9913 : Chondrodysplasia, EVC2-related in Bos taurus'. [22/03/2022].
Chondrodystrophy
No summary available.
Chromosomal abnormality, generic
No summary available.
Chromosomal abnormality, isochromosome, sex chromosome
No summary available.
Chromosomal structural anomaly, deletion
No summary available.
Chromosomal structural anomaly, duplication
No summary available.
Chromosomal structural anomaly, fragile site, autosomal
No summary available.
Chromosomal structural anomaly, fragile site, sex-chromosome
No summary available.
Chromosomal structural anomaly, insertion, autosomal
No summary available.
Chromosomal structural anomaly, inversion, pericentric, autosomal
No summary available.
Chromosomal structural anomaly, inversion, pericentric, sex chromosome
No summary available.
Chromosomal structural anomaly, translocation, centric fusion
No summary available.
Chromosomal structural anomaly, translocation, generic
No summary available.
Chromosomal structural anomaly, translocation, reciprocal
Besnard et al. (2023) monitored “sire-family calf mortality within the French and Walloon Holstein populations, and to use this information to detect genetic defects that might have been overlooked by lack of specific symptoms. … After outlining the 5 worst bulls per category, we paid particular attention to the bulls Mo and Pa, because they were half-brothers. Using a battery of approaches, including necropsies, karyotyping, genetic mapping, ...