CRISPR/cas9 technology targeting exon 2 generated a 95 bp deletion (5 -CTTCAAAGCTTCACCTTTCTCCGAAGGCGGACGTGAAGAACTTGATTTCT TACGTGGTGACCAAGACAAGAGCGATTAACGGATCGTACCATCGT -3) resulting in a frame shift and a premature stop codon and a knockout of isoform 1. (J:331475)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count