CRISPR/Cas9 technology targeting the two ends of exon 2 deleted exon 2 (approximately 5 kb of the gene, deleting the majority of the coding sequence). Western blot and RT-qPCR confirmed absence of protein and transcript. (J:306854)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count