The targeting vector is designed to insert a cassette containing an inverted exons 15-17 with a mutated exon 16 downstream of endogenous exon 17 of the gene. Specifically, the vector includes, from 5' to 3', a loxP site, endogenous exons 15-17, an FRT-flanked neomycin resistance (neo) cassette, a lox71 site, a cassette containing inverted exons 15-17, a lox66 site. The inverted cassette is modified to harbor a guanine to adenine substitution at amino acid 571 in exon 16, resulting in a glutamic acid to lysine mutation (E571K), commonly found in patients with a variety of cancer types, including chronic lymphocytic leukemia (CLL), Hodgkin's lymphoma (HL), and esophageal carcinoma. Flp-mediated recombination removed the FRT-flanked neo cassette. (J:279986)
Basic Information
Insertion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count