| Primary Identifier | MGI:6474002 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence | Gene | Gch1 |
| Strain of Origin | C57BL/6 | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR/Cas9 technology generated a T to G change at position 323 (c.323T>G) resulting in a leucine to arginine substitution at amino acid 108 (p.L108R) which corresponds to the human p.L117R mutation identified in a patient with Bh4-deficient hyperphenylalaninemia B. A silent mutation (GTC to GTA) was also introduced to prevent the biding of sgRNA to the oligo donor. |
