| Primary Identifier | MGI:6162644 | Allele Type | Targeted |
| Attribute String | Humanized sequence | Gene | Slc19a3 |
| Transmission | Germline | Strain of Origin | Not Specified |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | 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. |
