Summary | Mutation origin | Mutation description | Find Mice (IMSR) | References

Symbol:	Gt(ROSA)26Sortm1(CAG-SPAST*C448Y)Baas
Name:	gene trap ROSA 26, Philippe Soriano; targeted mutation 1, Peter Baas
MGI ID:	MGI:5806664
Synonyms:	HSP-SPG4-C448Y, locked SPASTC448Y
Gene:	Gt(ROSA)26Sor  Location: Chr6:113044389-113054205 bp, - strand  Genetic Position: Chr6, 52.73 cM
Alliance:	Gt(ROSA)26Sortm1(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 (Conditional ready, Humanized sequence, Inserted expressed sequence) Mutations:    Insertion, Single point mutation   Gt(ROSA)26Sortm1(CAG-SPAST*C448Y)Baas expresses 1 gene Knock-in expresses: Organism Expressed Gene Homolog in Mouse Note human SPAST (6683) Spast  (MGI:1858896) contains a C448Y substitution   Mutation details: A CAG-promoter-driven loxP-flanked STOP cassette followed by a human full-length spastin (M1) 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 was inserted between exons 1 and 2 of the Gt(ROSA)26Sor 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. This mutation is commonly found in patients with hereditary spastic paraplegia. (J:273408)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Gt(ROSA)26Sor Mutation:	944 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:	2 reference(s)