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| Nomenclature |
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Symbol:
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Spastm1Gri
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Name:
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spastin;
mutation 1, Andrew J Grierson
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MGI ID: |
MGI:3813522 |
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Synonyms: |
SpastdeltaE7 |
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Gene:
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Spast
Location:
Chr17:74338987-74391113 bp, + strand
Genetic Position: Chr17,
45.64 cM, cytoband E3
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Mutation
origin |
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Strain of Origin:
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BALB/cAnN
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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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)
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Inheritance: | |
Dominant |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Spast Mutation:
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7 strains or lines available |
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| References |
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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;():
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All: |
2 reference(s)
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Analysis Tools
