The targeting vector contains a loxP site upstream of exon 2, a FRT-flanked neomycin selection cassette downstream of exon 2 followed by a loxP 2272 sequence, an inverted mutant exon 2 carrying the serine to phenylalanine (S34F) missense mutation, a loxP site and another loxP2272 sequence. Flp-mediated recombination removed the neomycin cassette. The mutant exon 2 replaces the wild-type exon after cre-mediated recombination. (J:267082)
Basic Information
(129S6/SvEvTac x C57BL/6-Tg(UBC-GFP)30Scha/J)F1
Insertion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count