Search Phenotypes

Coat colour, dominant white with bilateral deafness — Glass-eyed albino; German White Fleckvieh syndrome

Philipp et al. (2011) reported a "dominantly inherited syndrome associated with hypopigmentation, heterochromia irides, colobomatous eyes and bilateral hearing loss . . . in Fleckvieh cattle"

OMIA ID: 1680Inheritance: 3Characterised: YesYear: 2011

Developmental duplications

Much useful information on this disorder, including a video, is available from http://www.angus.org/pub/DD/DDInfo.aspx

OMIA ID: 2103Inheritance: A GWAS conducted by Prof. Beever showed clear evidence of a recessive mutatio...Characterised: YesYear: 2014

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

Osteogenesis imperfecta, COL1A2-related

Jacinto et al. (2025) investigated two aborted half-sib Stabiliser calves with osteogenesis imperfecta. Whole genome sequencing identified a likely "heterozygous missense variant in exon 21 of [the functional candidate gene] COL1A2, located in the triple-helical region (Chr4:g.11792118G > A; c.1156G > A; p.Gly386Arg) [omia.variant:1837]. ... The variant may be a de novo mutation inherited from a germinal mosaic sire."

OMIA ID: 2112Inheritance: 3Characterised: YesYear: 2025