Spast^M1Gri
Chemically induced Allele Detail

Summary

• Symbol: Spast^M1Gri
• Name: spastin; mutation 1, Andrew J Grierson
• MGI ID: MGI:3813522
• Synonyms: Spast^deltaE7
• Gene: Spast Location: Chr17:74645982-74698110 bp, + strand Genetic Position: Chr17, 45.64 cM, cytoband E3
• Alliance: Spast^M1Gri page

Mutation origin

• Strain of Origin: BALB/cAnN

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This mutation comprises a T to G transversion at the +2 position of the seventh intron, which results in the generation of transcripts lacking exon 7 and instead containing 50 novel C-terminal amino acids preceding a premature termination codon. The absence of protein expression was confirmed by western blot analysis on brain extracts. (J:148877)
• Inheritance: Dominant

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 Spast Mutation: 37 strains or lines available

References

• Original: J:148877 Kasher PR, et al., Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients. J Neurochem. 2009 Jul;110(1):34-44
• All: 2 reference(s)