| Primary Identifier | MGI:6343570 | Allele Type | Targeted |
| Attribute String | Humanized sequence, Inserted expressed sequence | Gene | Gt(ROSA)26Sor |
| Transmission | Germline | Strain of Origin | C57BL/6N |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | A CAG-promoter-driven loxP-flanked STOP cassette followed by a human full-length spastin containing a G to A point mutation at position 1343 in exon 11 within the AAA domain resulting in a cysteine to tyrosine change at amino acid 448 (GenBank accession number NM_014946.3, CCDS_17778.1) was inserted into the locus. The C448Y mutation is located in the second pore loop of the AAA domain of spastin and destroys the microtubule-severing activity of the protein. Cre-mediated recombination removed the floxed STOP cassette. This mutation is commonly found in patients with hereditary spastic paraplegia. |
