CRISPR/Cas9 genome editing technology was used to induce a 46-bp deletion in exon 8. The deletion causes a frameshift and a subsequent stop codon 15 amino acids downstream of the deleted sequences in the encoded protein. (J:251671)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count