Figure 3.
Characterization of the loss-of-function approach of the seven variants using K/O model rescue assay. (A ) Schematic representation of human SMO coding region and components of its domains. (B ) Lateral view of the control, smo-/smo- and injection phenotypes observed at 48h post-fertilization. The arrowheads indicate the shortened body trunk and curled U -type tail phenotype, asterisk and arrow show heart edema and less eye color of retina in the small eye of the K/O phenotype. Three different rescue phenotypes of injection with SMO construct-derived mRNA. Type I represents a normal phenotype as seen with control and a completely rescued embryo. Type II represents partially rescued color and size of eye but not the somite. Type III is a partially rescued color and size of eye and body shape. (C ) Results of rescue analysis. Genotyped embryos after confirming the phenotype showed that p.V404M was significantly impaired in the smo-/smo- phenotypic rescue compared to other variants. (D ) The division of rescue type after genotype phenotype analysis showed the percentage of complete rescue is different only in p.V404M. Error bars represent means with SD. **P < 0.01 (Student’s t-test).