ZFIN Image: Grassini et al., 2019, Fig. 2

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Figure Caption

Fig. 2

The uq^23ksphenotype is caused by a truncating mutation in myo5b. A: Whole genome sequencing based mapping of uq^23ksmutant showing linkage to Chromosome 21 and the linked region containing myo5b (red arrow). B:Sequence analysis identified a T/A transversion (A/T on negative strand shown), introducing a splice acceptor site in intron 12 of the myo5b gene, resulting in a 10 bp insertion at the beginning of exon 13. C: Sanger sequencing of myo5b cDNA encompassing the junction between exon 12 and exon 13 from wild‐type, sibling, and mutant embryos. D: Schematic representation of the mutation site in intron 12 and protein. E:Complementation analysis between a CRISPR/Cas9‐generated myoVbmutant founder and a uq^23kscarrier showing a failure to complement, including the cardiac phenotype (arrowhead), confirming myo5bas the mutated gene causing the uq^23ks phenotype

Acknowledgments

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