The targeting construct is designed to insert a loxP- and an FRT-flanked neomycin (neo) resistance cassette downstream of coding region of the gene. Additionally, a nonsense mutation, R504X, is introduced in to exon 11. The mutation is analogous to the human mutation, R493X, and is commonly associated with frontotemporal dementia (FTD). Flp-mediated recombination removed the FRT-flanked neo cassette. (J:101977)
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