Achondrogenesis, type II — Holstein bull-dog dwarfism
In a remarkable indication of the power of whole-genome sequence analysis, Daetwyler et al. (2014) identified a causal mutation for this disorder in Holstein Friesian cattle as a missense mutation (g.32475732G>A [UMD3.1 reference sequence]; p.Gly960Arg, omia.variant:223) in the COL2A1 gene (which encodes the alpha-1 chain of type II collagen), by comparing the sequence of only two affected calves with sequence from bulls in the 1000-bull-ge...
OMIA ID:1926Inheritance: 3Characterised: YesYear: 2014
Coat/skin colour, oculocutaneous albinism type I (OCA1), TYR-related
See also OMIA:002280-9913 : Coat colour, albinism, generic in Bos taurus (taurine cattle). Some refrences for albinism in cattle that have not been confirmed to be due to TYR variants have been moved to the generic entry [09/09/2025].
OMIA ID:202Inheritance: 5Characterised: YesYear: 2004
Neuropathy with splayed forelimbs, UCHL1-related — Jersey neuropathy with splayed forelimbs
In a press release issued on 20 November 2020, the American Jersey Cattle Association announced that "A new undesirable genetic factor, known as Jersey Neuropathy with Splayed Forelimbs (JNS), has been identified in the Jersey breed."
OMIA ID:2298Inheritance: Al-Khudhair et al. (2022): "Inheritance of an undesirable genetic factor was ...Characterised: YesYear: 2022
