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Spasttm1.1Evre
Targeted Allele Detail
Nomenclature
Symbol: Spasttm1.1Evre
Name: spastin; targeted mutation 1.1, Evan Reid
MGI ID: MGI:6393452
Synonyms: spatinN384K
Gene: Spast  Location: Chr17:74645982-74698110 bp, + strand  Genetic Position: Chr17, 45.64 cM, cytoband E3
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 detailsExons 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  22 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/03/2022
MGI 6.21
The Jackson Laboratory