The targeting vector contains a loxP site inserted downstream of exon 4 and a second loxP, site followed by a STOP codon, downstream of exon 8 of the gene. An FRT-flanked neomycin resistance cassette and cDNA encoding exons 5, containing a leucine to arginine mutation (L161R), followed by exons 6-8, were inserted downstream of the second loxP site. Flp-mediated recombination removed the FRT-flanked neo cassette. The L161R mutation is analogous to the human IKZF3-L162R mutation associated with malignant transformation of B cells in chronic lymphocytic leukemia (CLL). (J:303191)
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