CRISPR/Cas9 technology was used to generate two deletions in the promoter region. The first deletion, of 16 bp, encompasses base pairs -95 through -80 relative to the translation initiating ATG. The second deletion, of 649 bp, encompasses base pairs -809 through -160 relative to the ATG start codon. (J:94077)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count