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).