yapnl13/nl13 mutants exhibit coloboma. (A) Splice site variants elicited by the yapnl13 allele. The mutation results in aberrant splicing and an early stop codon in the transactivation domain for all described products. (B) Protein schematics for wild-type and predicted mutant yapnl13 allele variants. (C) Western blot showing the loss of full-length Yap in yapnl13/nl13 mutants. A smaller protein product is detectable at higher levels in the mutant (~40 kDa). (D-D′′,G-G′′) 3dpf wild-type and yapnl13/nl13 embryos showing coloboma (arrows) in the absence of other overt phenotypes. Plastic sections of wild-type (D′′) and mutant (G′′) eyes show the coloboma (arrow) phenotype and RPE deficits that are sometimes observed in the ventral retina. (E,F,H,I) Sections showing Yap and Taz proteins (green) in wild-type and yapnl13/nl13 mutant eyes. Red counterstain (TO-PRO3) shows nuclei.
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