CRISPR/Cas9 technology introduced several mutations (atgcccctggtg to atgTGActAgtg), including a stop codon, in exon 2 right after the transcription start site to inhibit RNA and protein expression. (J:314270)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count