Fig. 1
From: A novel cardiomyopathy phenotype linked to a CHD7 missense variant
Murine T730 missense and frameshift-null alleles. (a) Alignment of mouse and human CHD7 proteins showing conservation between the human T730 and mouse T720 phosphorylation sites. (b) Schematic representation of the T720A point mutation and the frameshift mutation generated by CRISPR/Cas9-mediated technology. The frameshift null allele (Chd7fs) terminates at the N-terminal region due to the deletion of a cytosine at position 2718 in the Chd7 cDNA (NM_001277149.1). (c) Offspring produced by mating mice with Chd7T720A and/or Chd7fs alleles. The number of pups is shown along with the expected and observed percentages. Chd7T720A/fs mice died by postnatal day 2, and all pups from Chd7fs/+ mothers died after delivery.
