A targeting construct was designed to insert a loxP site followed by a frt-flanked neomycin (neo) resistance cassette upstream of exon 3 of the methyl CpG binding protein 2 (Mecp2) gene. A second loxP site was inserted in the 3' untranslated region of exon 4. A point mutation was introduced in exon 4, resulting in a missense mutation, A140V, commonly found in humans carrying Rett Syndrome (RTT) X-linked mental retardation. Flp-mediated recombination removed the neo cassette. (J:171410, J:171411)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count