CRISPR/Cas9 technology generated a 127 base pair deletion in exon 2 resulting in a frameshift mutation. Western blot and immunofluorescent analysis confirmed absence of protein. (J:279167)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count