CRISPR/Cas9 genome editing technology was used to generate a deletion of CCCCCACCTCGCGCCTTC between exons 10 and 11. This deleted a 6amino acid region of the encoded protein within a 14amino acid stalk region proximal to the transmembrane domain. The resulting protein is cleavage-resistant. (J:303591)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count