Khalaj et al. (2009): "A nucleotide substitution of T to A resulting in an amino acid substitution of leucine to histidine (p.Leu2153His) was identified in a highly conserved residue in the C1 domain of factor VIII. Genotyping of 254 normal animals including the pedigree of the affected animals and randomly sampled animals of different breeds confirmed that the substitution is the causative mutation of cattle haemophilia A." Analysis of whole-genome sequence from a German Fleckvieh bull affected with a mild form of this disorder and from 19 non-affected cattle from other breeds enabled Reinartz et al. (2018) to identify a likely causal missense variant, namely ss213751737:g.38842314A>T; p.His45Leu in the F8 gene. A synonymous variant ss2137517373:g.38884774G>A; p.Ala361Ala was in complete disequilibrium with the former variant.
