A loxP site, engrailed 2 (En2) splice acceptor sequence, cDNA for Idh1 exons 3-9, SV40 poly(A) signal sequences, a second loxP site, an FRT site, a neomycin resistance gene cassette and a second FRT site were inserted into intron 2 and a p.R132H (arginine 132 to histidine) mutation was introduced in exon 3. The neo cassette was removed through subsequent Flp-mediated recombination and the cDNA was removed through Cre-mediated recombination. (J:327421)
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