CRISPR/Cas9 technology generated a deletion from the 3 end of exon 1 to 3 end of exon 2. Western blot analysis confirmed the absence of protein. (J:292033)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count