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Chemically induced Allele Detail
Symbol: SpastM1Gri
Name: spastin; mutation 1, Andrew J Grierson
MGI ID: MGI:3813522
Synonyms: SpastdeltaE7
Gene: Spast  Location: Chr17:74338987-74391113 bp, + strand  Genetic Position: Chr17, 45.64 cM, cytoband E3
Strain of Origin:  BALB/cAnN
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThis 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
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  8 strains or lines available
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 Apr 22;
All:  2 reference(s)

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MGI 6.01
The Jackson Laboratory