Phenotypes
Dwarfism, ACAN-related — Bulldog calf; chondrodysplasia
Information about ACAN related dwarfism in Bos indicus cattle was previously listed here and was moved to 'OMIA:001271-9915 : Dwarfism, ACAN-related in Bos indicus' [19/06/2023]
Hypomyelinogenesis, congenital — Charolais ataxia; Progressive ataxia of Charolais
By comparing whole-genome sequenced data (from 2 affecteds and one control) in the candidate region (see Mapping section), and filtering resultant candidate variants, Duchesne et al. (2018) narrowed the field down to "a single substitution in exon 5 of KIF1C (chr19:27041449 C/T). For easier comprehension and since KIF1C gene in cattle is on the reverse strand, the substitution will be referred as KIF1C G>A in order to match with the transcr...
Muscular hypertrophy (double muscling) — Double muscling; “culón”; horse rump
The double-muscle trait in cattle is characterised by an increase in muscle mass of approx 20%, resulting in substantially higher meat yield, a higher proportion of expensive cuts of meat, and lean and very tender meat, for which a substantial premium is paid. The trait is autosomal recessive, and the locus has been given the symbol mh. It occurs at such a high frequency in Piedmontese and Belgian Blue cattle that it is characteristic of these...
Perinatal weak calf syndrome
Exome sequencing in the candidate region (see Mapping section) of 2 affected, one carrier and one homozygous normal animal enabled Hirano et al. (2013) to identify the causal mutation as a missense mutation (c.235G>C; p.Val79Leu) in the IARS gene which encodes isoleucyl-tRNA synthetase. Hirano et al. (2016) reported that "the [above] homozygous IARS mutation not only causes calf death, but also embryonic or fetal death.