A wild-type Esr1 exon 10 cDNA, followed by a 4x polyadenylation signal, an FRT-flanked PGK-neomycin selection marker, a second loxP site, and a mutated exon 10 containing an aspartate to glycine substitution at amino acid 542 (p.D542G) replaced exon 10. The PGK-neomycin cassette was removed via flp-mediated recombinase. This corresponds to D538G, one of the most commonly occurring human ESR1 mutations. Cre-mediated recombination is necessary to remove the wild-type exon 10 and allow expression of the modified exon 10. (J:335552)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count