A 301-bp deletion, from the 3' end of intron 1 through the 5' end of exon 2, was introduced by CRISPR/Cas9 genome editing technology. This deletion deletes the exon 2 splice acceptor site and the start codon in exon 2. (J:238962)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count