Supplementary Figure 12: SMCHD1 overexpression in Xenopus causes dose-dependent craniofacial anomalies. | Nature Genetics

Supplementary Figure 12: SMCHD1 overexpression in Xenopus causes dose-dependent craniofacial anomalies.

From: De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Supplementary Figure 12

(a,b) Measurements of eye diameter of Xenopus embryos injected with 240 pg (a) or 500 pg (b) SMCHD1 mRNA. Y353C is an FSHD2 mutation. At least 20 embryos were studied for each condition. (cf) Representative Xenopus embryos injected with 500 pg of wild-type or FSHD2 mutant SMCHD1 or 120 pg of BAMS mutant mRNA show varying degrees of craniofacial abnormalities as compared to uninjected control tadpoles at 4 days post-fertilization. Data are shown as means ± s.d. P values were calculated by Kruskal–Wallis test followed by Dunn’s post test. n.s., not significant.

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