The biologically active domain coded for in exon 2 was targeted with sgRNAs using CRISPRCas9 technology, resulting in a 398 bp deletion encompassing the 3' end of exon 1, entire intron 1 and most of exon 2. (J:309962)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count