在第12外显子上游插入了loxP位点。在第12外显子下游插入了敲除neo cassette。未检测到酶活性。去除neo cassette是恢复酶活性的必要步骤。(来源:J:170067, J:193013)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count