Slc19a3^tm1.1Nwak

A G to C point mutation at nucleotide 940, resulting in a glutamate to glutamine amino acid change at position 314 (E314Q), was introduced in exon 4. In addition, a neomycin selection cassette flanked by loxP sites was inserted downstream of the mutation in intron 4 which was removed via cre-mediated recombination. The E314Q mutation corresponds to the human E320Q mutation seen in Japanese patients with biotin-responsive basal ganglia disease. (J:246593)