Figure 2
From: The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
The c.T3235 > C ADAMTS18 mutation has a deleterious effect in vivo . Bright-field stereomicroscopy images of dorsal views of control (A), Mo-AdamTS18- (B), MO-AdamTS18/ADAMTS18wt- (C), and MO-AdamTS18/ADAMTS18mut- (D) injected medaka embryos. (A’,A”,B’,B”,C’,C”, D’,D”) Frontal cryostat sections of St40 medaka embryos stained with DAPI (white). Panels A’-D’ are frontal sections through the telencephalon (the section plan is marked by the blue line), whereas panels A”-C” are frontal sections through the mesencephalon (the section plan is marked by the red line). (B’) In Mo-AdamTS18-injected embryos, both the dorsolateral part of the telencephalon (DLT) and the size of the telencephalic ventricles (TV) are altered with respect to control embryos (A’). (B”) Expansion of the optic tectum (OT) in the mesencephalon is present in Mo-AdamTS18-injected embryos. (C’-C”) Wild-type human ADAMTS18 mRNA co-injection with Mo-AdamTS18 restores the correct pattern of both telencephalic and mesencephalic tissue. (D’-D”) Co-injection of the human ADAMTS18 mRNA carrying the c.T3235 > C mutation with the Mo-AdamTS18 does not rescue the telencephalic and mesencephalic phenotypes.