A vector containing the following elements was targeted to the host locus using CRISPR/Cas9 technology: The CAG promoter, a loxP site flnaked STOP cassette, three copies of the FLAG tag, the cDNA for the coding sequence of the human MIA2 gene containing the P521A point mutation, WPRE-probe, and poly-A signal. This creates a conditional-ready allele that will express the mutant human gene only after cre-mediated excision of the STOP cassette. (J:265909)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count