The gene trap vector VICTR54 inserted into the intron between exons 13 and 14 resulting in premature stop codons downstream. RT-PCR analysis showed that exon 13 failed to properly splice next to exon 14. The expressed protein lacks over 700 residues, which include the functional nuclear localization signal, kinetochore binding domain, and 2 BRCT motifs. (J:83164)
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