An arginine to tryptophan (C-to-T change at position 733 and C-to-G change at position 735) substitution was introduced at codon 245 (p.R245W) in exon 7. In addition, a loxP site, Trp53 exons 7-11 with a native polyadenylation signal sequence, and FRT site flanked PGK neomycin resistance gene cassette and second loxP site were inserted in intron 6. The PGK neomycin cassette was removed via Flp-mediated recombination. The floxed exons 7-11 were removed via cre-mediated recombination in the germline resulting in the expression of the R245W mutation.
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