CRISPR/Cas9 technology generated a 4 bp deletion within exon 9 creating a premature stop codon 79 amino acid residues downstream of the deletion in the two transcriptional isoforms. Western blot analysis confirmed the absence of both the long and short isoforms. (J:325680)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count