Fig. 2
From: A novel cardiomyopathy phenotype linked to a CHD7 missense variant
Gross morphology and 2D digital section phenotyping with iodine-contrasted micro-CT. (a) Table summarizing the occurrence of organ abnormalities in Chd7 mutants across different genotypes: WT (Chd7+/+), T720A/+ (Chd7), T720A/T720A (Chd7T720A/T720A), frameshift null fs/+ (Chd7fs/+), and compound heterozygous fs/T720A (Chd7fs/T720A). The analysis was performed on mouse embryos at embryonic day 18.5 (E18.5) using micro-CT. Shaded areas in the table indicate the presence of abnormalities in various organs including the brain, eye, heart, and kidney. (b) Representative micro-CT images showing the phenotypic abnormalities observed in Chd7 mutants. The abnormalities are indicated by red arrows and are organized by organ: Brain (reduced lateral ventricular size in Chd7T720A/+ and Chd7fs/T720A mutants), eye (microphthalmia observed in two Chd7fs/+ mutants, heart (enlarged ventricular chamber, thinning of the ventricular wall, and ventricular septal defect in Chd7fs/+ mutant; or reduced ventricular chamber and thickened ventricular wall in Chd7fs/T720A mutant), and kidney (enlarged kidney in Chd7T720A/T720A mutant; or hydronephrosis in Chd7fs/T720A mutant). Scale bars for reference are included in the images (2.5 mm, 5 mm, and 2 mm).
