A loxP site and an FRT site flanked neomycin resistance gene cassette were inserted into intron 27 and a second loxP site and a copy of exon 28 containing a mutation that changes glutamic acid codon 1605 to a glutamine codon (p.E1605Q) were inserted into intron 28. The neo cassette was removed through subsequent flp-mediated recombination, leaving a conditional-ready allele with the wild-type exon 28 (the last coding exon) floxed. Upon cre-mediated recombination, the floxed wild-type exon is deleted and the mutated exon 28 is expressed. (J:279595)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count