| Primary Identifier | MGI:6828603 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence | Gene | Nhlrc1 |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR/cas9 endonuclease-mediated genome editing was used to create an amino acid substitution at position 148 (aspartic acid to asparagine, D148N). Loss of function mutations in malin, such as D146N (corresponding to mouse D148N), are associated with Lafora disease, a rare and severe form of progressive myoclonus epilepsy. |
