An FRT site and a lox5171 site flanked neomycin resistance gene cassette were inserted into intron 1 and serine codon 108 (AGC) in exon 2 and 3 was changed to alanine (GCC) (p.S108A). A loxP site, a second FRT site, a copy of the gene from exon 2 onward with intron 2 removed (and containing the p.S108A mutation in the fused exon 2-3), and an F3 site flanked puromycin resistance gene cassette and a second loxP site were inserted downstream of the gene. Subsequent Cre-mediated recombination would remove the neo cassette and the duplicated sequence and puro cassette and create an allele expressing transcripts containing the mutation on the endogenous exon structure. Flp-mediated recombination would remove the neo cassette, endogenous exons 2-7 and the puro cassette, creating an allele expressing transcripts containing the mutation on the fused exons 2-3. (J:342744)
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