Search Phenotypes

Amastia, congenital

Jacinto et al. (2022) reported that "Whole genome sequencing (WGS) was performed using genomic DNA obtained from ear tissue from the [affected] calf. . . . Variant filtering did not reveal any private homozygous protein-changing variants present in the genome of the affected calf, making a possible recessive inheritance unlikely. Assuming that a spontaneous mutation affecting a protein-coding gene is the cause, filtering for private heterozygo...

OMIA ID: 2565Inheritance: Jacinto et al. (2022) "suspected that the identified variant in SGSH either o...Characterised: YesYear: 2022

Hypohidrotic ectodermal dysplasia, X-linked, EDA-related — Congenital hypotrichosis and anodontia defect; Ectodermal dysplasia; X-linked hypohidro...

Because of the obvious homology of this disorder with the homologous human disorder, Drögemüller et al. (2001) proposed that the bovine disorder be called by the name of its human homologue, which is now done in this catalogue. The earlier names are listed here as species-specific names [Frank Nicholas 20 June 2002].

OMIA ID: 543Inheritance: 14Characterised: YesYear: 2001

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...

OMIA ID: 683Inheritance: 1Characterised: YesYear: 1997

Niemann-Pick disease, type C1

Woolley et al. (2020) report clinical signs, pathology, fibroblast cell culture analysis and identification of a likely disease causing mutation for Niemann-Pick type C disease in Australian Angus/Angus-cross calves.

OMIA ID: 725Inheritance: 5Characterised: YesYear: 2020

Polled/Horns — Haplotype BHP; Haplotype HHP; Haplotype JHP

The absence of horns (polledness) is of substantial benefit in cattle, from an economic and welfare point of view: bruising due to horns is eliminated, and the stress associated with de-horning is avoided. (Information complied by Ulrika Tjälldén and Vanja Kinch, Uppsala, March 1998). In addition to naturally occurring variants for this trait, variants have been created artificially: Genetically-modifed organism; GMO.

OMIA ID: 483Inheritance: As described in the History section, this trait was the first cattle trait to...Characterised: YesYear: 2012

Trimethylaminuria (fishy taint)

In a neat piece of comparative detective work, Lunden et al. (2002; Genome Research 12:1885-1888) investigated whether the fishy off-flavour occasionally reported in cow's milk could be an animal model of fish-odor syndrome in humans, an inborn error of metabolism characterised by a fishy body odor, and known to be due to mutations in the gene for flavin-containing mono-oxygenase 3 (FMO3). They were able to show that this is, indeed, the case:...

OMIA ID: 1360Inheritance: 5Characterised: YesYear: 2002