A gene trap vector containing sequence encoding a splice acceptor, transmembrane domain, beta-geo, IRES-PLAP and polyA signal, was inserted into intron 1. A shortened protein isoform lacking exon 2 is produced thus this is not a null mutation. (J:117237)
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