Fig. 5

Rescue of nr6a1+nr6a1b zebrafish morphant phenotypes with wild-type and mutant human NR6A1 mRNA.

Controls (a, a’) have a straight body axis and the optic fissure (OF) is closed. The nr6a1+nr6a1b morphants that have a mild phenotype (b, b’) have close to a normal body with microphthalmia and heart edema; a moderate phenotype (c, c’) with a slightly bent body axis with smaller eyes, coloboma and a severe heart edema; and severe morphants (d, d’) have a curved body axis with smaller eyes, coloboma and heart edema. The morphant phenotype was rescued when the morpholinos were co-injected along with the human-NR6A1-wild-type mRNA. However, there was no significant rescue in the morphant phenotype when the morpholinos were injected with either R92W or R436C human disease-causing variants (e). Morpholinos were injected at 0.75 ng each (1.5 ng total). Embryos were imaged at 72 hpf. Scale bar = 100 µm. Statistical significance was calculated using Chi-square test and Fisher’s test. P value of nr6a1-TB-MO(a + b) V hWT-NR6A1 is <0.0001 and between nr6a1-TB-MO(a + b) V hR92W and hR436C are 0.0266 and 0.5169 respectively. Source data file has been provided for (e).