Positional cloning of the zebrafish out of sight mutation. (A) The out locus maps to chromosome 16 between markers Z6293 and Z8819. Sequence analysis of the gdf6a gene from this interval identified a mutation affecting its start codon (c.1A > G, p. Met1Val) in mutant (C) but not wild-type (B) individuals. SP = signal peptide, ASD = active signaling domain. (D, E) The overexpression of wild-type (E) but not mutant (D) gdf6a causes ventral eye defects. Shown are lateral (left panels) and ventro-lateral (right panels) views of zebrafish larvae at 3 dpf. Anterior is to the left, asterisks indicate the lens. (F) The frequency of ventral eye defects, following the overexpression of wild-type or mutant gdf6a in four independent experiments, as indicated on the horizontal axis (1 through 4). Numbers above the bar graph indicate sample sizes.
den Hollander et al. BMC Genetics 2010 11:102 doi:10.1186/1471-2156-11-102