CRISPR/Cas9 technology generated a 5 bp (CTTAC) deletion in exon 3 introducing a premature stop codon at position Ser81. Western blot analysis confirmed absence of protein. (J:292412)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count