Gt(ROSA)26Sor^{tm1.1(CAG-SPAST*C448Y)Baas}
Targeted Allele Detail

Summary

• Symbol: Gt(ROSA)26Sor^{tm1.1(CAG-SPAST*C448Y)Baas}
• Name: gene trap ROSA 26, Philippe Soriano; targeted mutation 1.1, Peter Baas
• MGI ID: MGI:6343570
• Synonyms: SPAST^C448Y, unlocked SPAST^C448Y
• Gene: Gt(ROSA)26Sor Location: Chr6:113044389-113054205 bp, - strand Genetic Position: Chr6, 52.73 cM
• Alliance: Gt(ROSA)26Sor^{tm1.1(CAG-SPAST*C448Y)Baas} page

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)26Sor^{tm1.1(CAG-SPAST*C448Y)Baas} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  SPAST (6683)

  Spast

  (MGI:1858896)

  Expresses human 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

• Mutation details: 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. (J:273408)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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: 993 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)