Phenotypes
Corneal opacity
No summary available.
Cranial duplication
No summary available.
Craniofacial dysplasia-hydrocephalus-dwarfism syndrome — Trisomy 23
Jacinto et al. (2025) investigated an Angus calf with a craniofacial dysmorphism-hydrocephalus-dwarfism syndrome using a whole genome sequencing based approach: "No single potential candidate variant was identified with the SNVs and small indel prioritization approach [used in this study]. Accordingly, we examined the presence of larger structural variants and chromosomal abnormalities. Analysis of the depth of coverage along the chromosomes r...
Cranioschisis
No summary available.
Cryptorchidism
No summary available.
Curly coat, karakul-type — Also known as Curly coat
Excluding variants found in breeds that do not show this trait, Daetwyler et al. (2014) narrowed the field down to "a missense mutation in KRT27 (c.276C>G; p.Asn92Lys; g.41636961C>G on BTA19; ss699911276)". Strong supporting evidence of the causality of this mutation was found by studying its presence in numerous bulls of the Montbeliarde breed (in which the trait occurs, and which, like Fleckvieh, derives from the Simmental breed) compa...
Cyclopia
No summary available.
Cystic ovary
No summary available.
Debility, congenital
No summary available.
Defective keratogenesis of hooves and mouth
No summary available.
Deficiency of uridine monophosphate synthase — Haplotype HHD
This disorder is of particular interest in cattle, because it is one of the few cases in which an embryonic lethal has been identified. (By their very nature, embryonic lethals are difficult to identify; their only manifestation is a return to service.) To date, the only known cause of this disorder in cattle is a nonsense mutation in codon 405 of the UMPS gene, resulting in a complete deficiency of functional UMPS (Schwenger et al., 1993). Si...
Depigmentation associated with microphthalmia
Having access to tissue from just a single affected calf and its normal parents, and having noted the calf's resemblance to disorders in humans (see OMIM links above) and various animal species (including horse {OMIA 000214-9796, OMIA 001688-9796}, cattle {OMIA 000214-9913, OMIA 001680-9913, OMIA 001931-9913}, and dog {OMIA 000214-9615}) due to mutations in the MITF gene, Wiedemar and Drögemüller (2014) sequenced "all exons of the MITF gene in...
Depigmentation syndrome
Jacinto et al. (2025) used "a trio-based whole-genome sequencing approach" to identify a homozygous variant of uncertain significace in RAD54B (chr14:g.69964786_69964792delinsAACTTAATTTTTTGTTAA; NM_001192955.1:c.2164_2170_delins; NP_001179884.1:p.Ala722_Gly724delinsAsnLeuIlePheCys*) in an affected Simmental calf with an syndromic form of depigmentation.
Dermatitis, digital
No summary available.
Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related — Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related; Ehlers-Danlos syndrome,...
For many years, there was circumstantial evidence that this disorder in cattle is due to a mutation in the gene for the enzyme procollagen I amino proteinase, which is the enzyme responsible for removing "surplus" amino acids from the N-terminal end of procollagen-I molecules. This phene has been renamed from "Ehlers-Danlos syndrome, type VII (Dermatosparaxis)" to "Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related" in OMIA on the ...