Spast^tm1.1Evre
Targeted Allele Detail

Summary

• Symbol: Spast^tm1.1Evre
• Name: spastin; targeted mutation 1.1, Evan Reid
• MGI ID: MGI:6393452
• Synonyms: spatin^N384K
• Gene: Spast Location: Chr17:74645982-74698110 bp, + strand Genetic Position: Chr17, 45.64 cM, cytoband E3
• Alliance: Spast^tm1.1Evre page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:253467
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exons 5-8 were replaced with a loxP site, a puromycin cassette flanked by FRT F3 sites, exons 5-7, a neomycin cassette flanked by FRT sites, a loxP site, and an exon 8 containing a C to A mutation at position 1152 resulting in an asparagine to lysine substitution at amino acid 384 (N384K). Flp-mediated recombination removed the selection markers. Western blot analysis of fetal brain tissue confirmed expression of protein. (J:253467)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Spast Mutation: 34 strains or lines available

References

• Original: J:253467 Connell JW, et al., Quantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective Spastin. PLoS One. 2016;11(3):e0152413
• All: 2 reference(s)