Tardbp^tm3.1Ckjs

The nucleotide A at position 1168 was substituted for G resulting in a N to D change at amino acid 390 in exon 6. A loxp-flanked neomycin-resistant gene that was inserted in intron 4 was removed via cre-mediated recombination. The N390D mutation was identified in a sporadic amyloid lateral sclerosis-TDP patient from Quebec. (J:285792)