CRISPR/Cas9 technology, using an sgRNA (targeting AGATGATCCTGATTACTCTG) and an ssODN template, generated a single nucleotide insertion (an A) into the codon of the first C-terminal tyrosine (Y323) and created a stop codon resulting in the loss of the last 12 amino acids (323-334). Western blot analysis indicated only low amounts of protein in neutrophil lysates, about 20-25% of wild-type levels. (J:332442)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count