Exons 14 and 15, encoding the catalytic domain, were replaced with a lacZ gene with a nuclear localization sequence, a neomycin resistance gene and stop codons. Western blot analysis confirmed the absence of protein expression in the adrenal glands. (J:203335)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count