Fig. 3: The incomplete skull of the MHS is associated with premature termination of the bone Gla protein (bglap) gene.

a,b, Morphometric scans of the whole skeleton (a) and cranial bones (b) of the MHS holotype using micro-computed tomography. c, Gene structure (top), alignment of nucleotide and amino acid sequences (middle) and sequencing read depth (bottom; the numbers along the x-axis represent the position of the base at the scaffold) for the bglap gene. The premature termination (coloured red) of bglap is due to a single nucleotide insertion (coloured orange). The complete amino acid alignments of bglap are shown in Supplementary Fig. 23. d–f, Phenotypic differences in skeletal development between control-MO-injected zebrafish embryos (d) and embryos injected with bglap-e1i1-MO (e) and bglap-ATG-MO (f) at 5 days post-fertilization. In vivo visualization of the skeleton was achieved by adding a fluorescent dye (calcein) to the water housing the fish. Dyes that bind to calcified matrices can be used to label the entire skeleton. 5ba, fifth branchial arch; e, ethmoid plate; ec, ectopterygoid; m, Meckel’s cartilage; op, opercular bone; pq, palatoquadrate. Scale bars: 200 μm. g, Quantification of the relative fluorescence intensity (RFI) of the head skeleton bone mass. Columns heights and bars represent means ± s.e.m. (unpaired Student’s t-test, n = 10), ***P < 0.0001.