A gene trap vector inserted into intron 2. The resulting fusion transcript of the first two exons of the gene (encoding the first 73 amino acids) with the beta-geo cassette produces a chimeric protein missing over 90% of the coding region, which is expected to be nonfunctional. Western blot analysis using an antibody recognizing an internal epitope near the C-terminus confirmed the absence of protein expression in homozygous mutant embryonic fibroblast cell lysates. (J:237614)
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