CRISPR/Cas9 mediated recombination inserted a T into exon 3 resulting a frameshift and early translation termination at 42 amino acids. Immunoblot analysis confirmed the absence of protein expression in homozygous cells. (J:276968)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count