Phenotypes

No summary available.

Takasuga et al. (2015): "To search for candidate causative variations for skeletal dysplasia and/or CW-3, three sires segregating the CW-3 QTL ... , three non-Q homozygous sires ... , and a Q-homozygous steer ... were subjected to targeted resequencing ... . The 3.3-Mb CW-3 region contained 910 candidate QTNs (858 SNPs and 52 indels), including four non-synonymous and five synonymous SNPs. ... . Non-synonymous SNPs were located in FGD3 ... and...

By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Inaba et al. (1996) showed in a population of Japanese Black cattle, that this disorder is due to a nonsense mutation (CGA>TGA; Arg>Stop) in the gene for band 3 of red cell membrane, at the position corresponding to codon 646 of the human gene. The lack of this protein produces very unstable red-cell membranes, resulting in anaemi...