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. 2021 Jun 15;9:647391. doi: 10.3389/fcell.2021.647391

FIGURE 2.

FIGURE 2

C2cd3ex2/ex2 mutants present with phenotypes indicative of a ciliopathy. (A) Schematic of CRISPR-targeted 8 bp deletion in C2cd3 at exon 2 which results in a premature stop codon. (B,C) Lateral and (B′,C′) frontal views of E9.5 wild-type and C2cd3ex2/ex2 embryos. C2cd3ex2/ex2 embryos exhibit pericardial edema (white dashed line), tight mesencephalic flexure (black line), mandibular hypoplasia (white arrowhead), abnormal heart looping (black arrow), and exencephaly (black asterisk). The heart is labeled with red asterisks. (B′′,C′′) Axonemal (Arl13b) and basal body (gamma-tubulin) immunostaining of E9.5 embryos in wild-type and C2cd3ex2/ex2 embryos. Scale bars for panels (B–C′): 0.5 mm; (B′′–C′′): 50 μm. (D) Western blot of E9.5 wild-type and C2cd3ex2/ex2 whole embryos showing deletion of the 255 kDa isoform in both C57BL/6J and CD1 backgrounds. The ratio of Gli3FL/Gli3R is increased in C2cd3ex2/ex2 compared to wild-type.

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