Fig. 2.

Genomic organisation of human FAM222B and zebrafish orthologues fam222bb and fam222ba. Exons are shown as boxes, introns as thin lines, lengths are given in bp. Coding parts are highlighted in dark blue, non-coding in light blue. ENSEMBL transcripts are ENST00000581407 for human FAM222B, ENSDART00000154504 for zebrafish fam222bb, and ENSDART00000145247 for zebrafish fam222ba. The 2-bp deletion identified in probands I and II is delineated by a red triangle. Listed LOF mutations from the ExAC browser are represented by red arrows. The binding site of the siRNA used for in vitro knockdown of FAM222B is highlighted as a blue bar. Binding sites of TALE nucleases are shown as grey bars and the red flashes indicate the region where the mutagenesis took place.