Exon 1 was replaced with a modified exon 1 in which a nucleotide substitution of A to T results in the destruction of the translation initiation site. Flp-mediated recombination removed the FRT-flanked neomycin resistance cassette inserted downstream of the modified exon 1. Western blot analysis confirmed the absence of e1 isoform expression and preserved e2 isoform expression in the brain. (J:209069)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count