A loxP site was inserted into intron 11 and an FRT site flanked neomycin resistance gene cassette, a lox2272 site, a mutated copy of exon 11 in reverse orientation, a second loxP site and a second lox2272 site (both in opposite orientation compared to respective first sites) were inserted into intron 11. The neo cassette was removed through subsequent Flp-mediated recombination. This allele expresses the wildtype transcript/peptide and only after Cre-mediated flipping of the mutated exon 11 and concurrent deletion of the WT exon 11 will it express the mutated transcript/peptide. The mutation involves changing serine codons 306 (TCT), 312 (TCT) and 313 (AGC) with alanine codons (GCT, GCT, GCC) to block phosphorylation of the three residues in the encoded peptide. (J:339829)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count