Phenotypes
Coat colour, white spotting
See also: OMIA:001737-9913 : Coat colour, white spotting, KIT-related in Bos taurus (taurine cattle)
Coat colour, white spotting, KIT-related — Hereford pattern or white headed, as well as spotting
Fontanesi et al. (2010): "[V]ariation in the white spotting in several cattle breeds is largely influenced by the multiple allelic series at the S locus, which includes at least four alleles (Olson 1999): SH (Hereford pattern), SP (Pinzgauer pattern or lineback), S+ (non-spotted) and s (spotting pattern). The SH allele gives white face, belly, feet and tail, often with a white stripe over the shoulder when homozygous. The SP allele gives pigm...
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].
Coloboma
No summary available.
Complex vertebral malformation — Haplotype HHC
Complex vertebral malformation is an inherited syndrome in Holstein-Friesian cattle. CVM has been reported in aborted, premature born, stillborn and neonatal calves. Affected calves have a reduced weight, a misshapen backbone and tendon contractions in the legs. Several other malformations including heart malformations are associated with this syndrome. A DNA test is available in Denmark and the Netherlands. [Imke Tammen: 26 Jan 2002] From a s...
Congenital chondrodystrophy of unknown origin — Acorn calf disease; Congenital joint laxity and dwarfism (CJLD)
No summary available.
Congenital disorder of glycosylation, GALNT2-related — Small Calf Syndrome
Reynolds et al. (2021): “The top-associated SNP in these analyses presented a highly correlated … c.1561-1G>A splice acceptor mutation in GALNT2 as potentially responsible for these effects … .” The authors “had provisionally mapped the variant as a candidate stature mutation (unpublished), and subsequently as a variant for which homozygotes were depleted … (Charlier et al., 2016).”
Congenital dyserythropoietic anaemia with dyskeratosis and progressive alopecia
The two calves reported by Kessell et al. (2012) "had a variably severe anaemia, associated with abnormal nucleated red blood cells in peripheral blood, and large numbers of rubricytes and metarubricytes with a characteristic nuclear ultrastructure in the bone marrow. Both calves were born with a wiry hair coat and a progressively ‘dirty-faced’ appearance associated with hyperkeratosis and dyskeratosis (apoptosis)".
Congenital hydranencephaly and cerebellar hypoplasia
No summary available.
Congenital muscular dystonia 1
In the words of Charlier et al. (2008), "All calves with CMD have episodes of generalized muscle contractures, but careful clinical examination suggested two distinct phenotypes (CMD1 and CMD2)."
Congenital muscular dystonia 2
In the words of Charlier et al. (2008), "All calves with CMD have episodes of generalized muscle contractures, but careful clinical examination suggested two distinct phenotypes (CMD1 and CMD2)."
Contractural arachnodactyly (Fawn calf syndrome) — Fawn calf syndrome
In a conference paper, Denholm et al. (2014) reported that "The causal mutation in CA was identified as a large (~58 kilobase pair) deletion affecting the ADAMTSL3 gene on bovine chromosome 21."
Convulsions and ataxia, CACNA1A-related — Bovine familial convulsions and ataxia; cerebellar abiotropy
Reith et al. (2024): "Whole-genome sequencing was performed on the [Angus] sire, six affected and seven unaffectedpaternal half-sibling calves and combined with data from 135 unrelated controls. The sire and five of the six affected calves were heterozygous for a nonsense variant (Chr7 g.12367906C>T, c.5073C>T, p.Arg1681*) in CACNA1A. The other affected calves (N = 8) were heterozygous for the variant but it was absent in the other unaff...
Corkscrew claw
No summary available.
Corkscrew penis — Premature spiral deviation
No summary available.