Primary Identifier | MGI:6389103 | Allele Type | Endonuclease-mediated |
Attribute String | Humanized sequence | Gene | Rapsn |
Strain of Origin | C57BL/6J | Is Recombinase | false |
Is Wild Type | false |
molecularNote | CRISPR/Cas9 technology generated C to G mutation resulting in an asparagine to lysine change at amino acid 88 (N88K). This mutation corresponds to a variant seen in congenital myasthenic syndrome patients. Western blot analysis showed a comparable level of the mutant protein to wild-type protein levels in the diaphragm. |