CRISPR/Cas9 genome editing technology was used to generate an allele with two simultaneous deletions: a 1,291bp deletion removing the region spanning the end of exon 1 to intron 5, and an 11bp deletion in exon 6. The deletions were expected to cause out-of-frame mutations, resulting in early termination of protein translation from the CTG start codon. Western blot and immunocytochemistry analyses confirmed the absence of encoded protein in homozygous null sperm. (J:337426)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count