CRISPR/Cas9 technology deleted 5 nucleotides (TTCAT) in the 4th exon. Immunohistochemistry and Western blot analysis confirmed absence of protein. (J:275180)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count