The targeting construct is designed to insert a loxP site downstream of exon 14 and an FRT-flanked neomycin (neo) resistance cassette, followed by a second loxP site downstream of exon 16. A CCA to TCA mutation was introduced in exon 16, encoding activation domain 2, converting a proline to a serine (P1278S) similar to a mutation found in a small cohort of bone metastases from breast cancer patients. Flp-mediated recombination removed the FRT-flanked neomycin cassette. (J:341575)
Basic Information
Insertion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count