Fig. 2 | Nature Communications

Fig. 2

From: Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

Fig. 2

FAT1-/- mouse exhibit microphthalmia and completely penetrant coloboma. FAT1 mRNA expression pattern in sagittal (a–c) and coronal (d–f) mouse optic cup sections at E10.5 (a, d), E11.5 (b, e), and E12.5 (c, f). Compared to wild-type (WT) embryos (g–i, E14.5) FAT1−/− mouse exhibited microphthalmia (j, m). Fused optic fissure margins of WT mouse embryos (E14.5, h, i; sagittal section) and unfused margins were seen in Fat1−/− mice (n, o) and/or persistence of POM—including early hyaloid vessel precursors (k, l, arrow) interposing between the closing edges of the fissure (E14.5). D dorsal, V ventral, T temporal, N nasal

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