Phenotypes
Citrullinaemia
To date, all cases of this lethal disorder in cattle appear to be due to the same mutation, namely a nonsense mutation in the 5th of 9 exons of the ASS gene. Normal bovine ASS is a peptide containing 412 amino acids; the mutation occurs in the 86th codon.
classical Ehlers-Danlos syndrome (cEDS), COL5A2-related — classical Ehlers-Danlos syndrome (cEDS), COL5A2-related; Ehlers-Danlos syndrome, classi...
This phene has been renamed from "Ehlers-Danlos syndrome, classic type, 2" to "classical Ehlers-Danlos syndrome (cEDS), COL5A2-related" in OMIA on the basis of the review on human Ehlers-Danlos syndromes by Malfait et al. (2020) [2/6/2022].
Claw/hoof disorders — Claw lesions
This entry covers many different disorders of the claw, because so many studies have considered them jointly. In their invited review of genetics and claw health, Heringstad et al. (2018) included digital or interdigital dermatitis, heel horn erosion, interdigital hyperplasia, sole hemorrhage, sole ulcer, white line disease, corkscrew claw, double sole, interdigital phlegmon, interdigital growth, laminitis, chronic laminitis, rotation, skin pr...
Cleft lip
No summary available.
Cleft lip and jaw, bilateral
No summary available.
Cleft lip and jaw, unilateral — cheilognathoschisis
Congenital unilateral cleft lip and jaw in association with campylognathia to the opposite side.
Cleft lip and palate — Non-syndromic congenital cleft lip and jaw
No summary available.
Cleft palate
No summary available.
Cleft palate, MYH3-related
Vaiman et al. (2022): "The genome of two affected animals was sequenced ... . ... two fully linked mutations in exon 24 of the MYH3 (myosin heavy chain) gene were detected: a 1-bp non-synonymous substitution (BTA19:g.29609623A>G) and a 11-bp frameshift deletion (BTA19:g.29609605-29609615del). These two mutations were specific to the Limousine breed, with an estimated allele frequency of 2.4% and are predicted to be deleterious. ... mRNA and...
Cleft palate, syndromic, WDR33-related — syndromic cleft palate with pentalogy of Fallot and internal hydrocephalus
Bolcato et al. (2025): Genetic analysis identified a missense variant in WDR33 (omia.variant:1814) that was heterozygous in both analyzed cases [Belgian Blue cross calves] and in an estimated 40% of the paternal gametes of the mosaic [Belgian Blue] founder, but absent in both dams and controls. ... The genetic findings were most consistent with a likely pathogenic dominant de novo mutation in WDR33 as the underlying cause of the observed conge...
Cloaca
No summary available.
CMAH enzyme deficiency
This phene includes references to studies involving genetically modified organisms (GMO).
Coat colour, agouti
No summary available.
Coat colour, albinism, generic
See also gene specific entries for albinism phenotypes, e.g., OMIA:000202-9913 : Coat/skin colour, oculocutaneous albinism type I (OCA1), TYR-related in Bos taurus (taurine cattle)
Coat colour, albinism, incomplete
No summary available.