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Targeted Allele Detail
Symbol: Gt(ROSA)26Sortm1.1(CAG-SPAST*C448Y)Baas
Name: gene trap ROSA 26, Philippe Soriano; targeted mutation 1.1, Peter Baas
MGI ID: MGI:6343570
Synonyms: SPASTC448Y, unlocked SPASTC448Y
Gene: Gt(ROSA)26Sor  Location: Chr6:113044389-113054205 bp, - strand  Genetic Position: Chr6, 52.73 cM
Alliance: Gt(ROSA)26Sortm1.1(CAG-SPAST*C448Y)Baas page
Germline Transmission:  Earliest citation of germline transmission: J:273408
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6N
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutations:    Insertion, Single point mutation
Gt(ROSA)26Sortm1.1(CAG-SPAST*C448Y)Baas expresses 1 gene
Mutation detailsA 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. (J:273408)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Gt(ROSA)26Sor Mutation:  830 strains or lines available
Original:  J:273408 Qiang L, et al., Hereditary spastic paraplegia: gain-of-function mechanisms revealed by new transgenic mouse. Hum Mol Genet. 2019 Apr 1;28(7):1136-1152
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.22
The Jackson Laboratory