| Primary Identifier | MGI:7867540 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence | Gene | Adnp |
| Strain of Origin | C57BL/6N | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR/Cas9 technology generated a T-to-A change at position 2154 (c.2154T>A) resulting in a stop codon at tyrosine 718 (p.Tyr718*). This corresponds to the most common Helsmoortel-van der Aa syndrome (also called ADNP syndrome) mutation p.Tyr719* in humans. The mutation truncates the protein inside the nuclear localization sequence so it lacks the nuclear localization signal. |
