A gene-trap cassette containing a CAG promoter and GFP inserted in intron 21. The portion of the intron 21 upstream of the cassette is retained in the mRNA, leading to a frameshift and premature stop codon (p.E968VfsX12) at amino acid 980, resulting in a protein of approximately 100 kDa. (J:250577)
Basic Information
Insertion of gene trap vector
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count