A targeting construct was designed to insert a loxP-flanked neomycin (neo) resistance cassette upstream of exon 4 of the gene. A missense mutation T158M found in humans carrying the neurological disorder Rett Syndrome (RTT) was introduced to exon 4. A 23 amino acid Tavi tag, allowing MECP2 protein to be biotinylated in the presence of E. coli biotin ligase, BirA, was introduced immediately upstream of Mecp2 stop codon. Cre-mediated recombination removed the upstream floxed neo cassette. (J:251147)
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