CRISPR/Cas9 technology generated a 1-bp deletion in exon 1, an A three bases from the photospacer adjacent motif (PAM) resulting in a frame-shift mutation after amino acid 53 of the open reading frame and introducing a premature stop codon. Western blot analysis confirmed the absence of protein in liver of homozygotes. (J:304415)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count