CRISPR/cas9 mediated recombination using 2 guide RNAs targeting exon 4 created a deletion mutation. Western blot analysis confirmed the absence of protein expression. (J:324294)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count