The targeting vector contains, from 5' to 3', a loxP site, a lox2272 site, a mutated exon 2 of the gene (in reverse orientation), a second loxP site, an FRT-flanked neomycin resistance cassette, and endogenous exon 2 followed by a second lox2272 site. The mutant exon contains a AGC to GCC mutation resulting in a serine to alanine change (S89A) which removes a highly conserved phosphorylation site at S89. The two pairs of heterospecific lox sites are inward-facing. Flp-mediated recombination removed the neomycin cassette. Cre-mediated recombination inverted the S89A mutated fragment to the correct orientation. (J:331371)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count