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Gt(ROSA)26Sortm1.1(CAG-SPAST*C448Y)Baas
Targeted Allele Detail
Nomenclature
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
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:273408
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6N
Mutation
description
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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:  765 strains or lines available
References
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
08/03/2022
MGI 6.21
The Jackson Laboratory