| Primary Identifier | MGI:6711346 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence | Gene | Atp6v0a1 |
| Strain of Origin | ICR | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR/Cas9 technology generated a G to C change in exon 13 resulting in an alanine to proline substitution at residue 506 (p.A512P) which corresponds to the human A512P variant detected in an individual with developmental and epileptic encephalopathy. Immunostaining indicates that protein levels are decreased in the cortex, hippocampus, and cerebellum at P10. |
