Phenotypes
Abortion (embryonic lethality), OBFC1-related
Charlier et al. (2016): frame-shift p.Lys127Valfs∗28
Caprine-like generalized hypoplasia syndrome — Syndrome d'Hypoplasie Généralisée Capréoliforme. Also known as Seckel-like syndrome
Nonsense mutation: c.493C>T "at position 65,369,074 in [exon 4 of] the CEP250 gene" "that encodes the centrosomal protein C-Nap1". The mutation "solely affects centrosome cohesion". "Loss of C-Nap1-mediated centriole cohesion leads to an altered cell migration phenotype". Results and quotations from Floriot et al. (2015).
Fanconi syndrome — Fleckvieh Haplotype 2
Burgstaller et al. (2016) have provided strong evidence that the FH2 frameshift mutation (see OMIA 001958-9913), namely c.771_778delTTGAAAAGinsCATC (rs379675307) in SLC2A2, is actually causative of Fanconi-Bickel syndrome in Fleckvieh cattle. Joller et al. (2018) reported the same likely causal variant in a Swiss Braunvieh calf.
Haplotype with homozygous deficiency NH7, CAD-related
Mesbah-Uddin et al. (2019) reported a likely causal variant as a "missense mutation CAD g.72399397T>C (p.Tyr452Cys)"
Marfan syndrome — Marfan Syndrome
Besser et al. (1990) reported a congenital syndrome of long, thin limbs, severe joint and tendon laxity, microspherophakia, ectopia lentis, heart murmurs and aortic dilatation in 7 calves, where all sired by a single phenotypically normal bull suspected of germline mosaicism for a new mutation resulting in this disease. One of the calves died with ruptured aorta at age 16 months. Histopathologic and electron microscopic studies of the aortic m...
Osteogenesis imperfecta, type II, COL1A1-related
Bourneuf et al. (2017): a de novo likely causal variant is COL1A1 p.1049_1050delinsS in Fleckvieh Petersen et al. (2019): "Whole-genome sequencing revealed the presence of a missense mutation in the alpha 1 chain of collagen Type I (COL1A1), for which both calves were heterozygous. The variant resulted in the substitution of a glycine residue with serine in the triple helical domain of the protein; in this region, glycine normally occupies eve...
Osteopetrosis, SLC4A2-related
No summary available.
Protoporphyria — bovine erythropoietic protoporphyria
The report of the use of a DNA genotyping test by Healy et al. (1995), citing a personal communication from G.S. Johnson at the University of Missouri, implied that the molecular basis of this disorder within the gene for ferrochelatase had been determined by Dr Johnson. Jenkins et al. (1998) appear to have been the first to publicly report the molecular basis of this disorder. They did so by cloning and sequencing a very likely comparative ca...