CRISPR/Cas9 technology knocked-in a glutamate to alanine change at position 381 (E381A). This mutation produces a glutamylation-defective mutant. (J:259707)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count