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Spg11tm1.1Ics
Targeted Allele Detail
Summary
Symbol: Spg11tm1.1Ics
Name: SPG11, spatacsin vesicle trafficking associated; targeted mutation 1.1, Mouse Clinical Institute
MGI ID: MGI:6451766
Gene: Spg11  Location: Chr2:121884001-121948867 bp, - strand  Genetic Position: Chr2, 60.5 cM
Alliance: Spg11tm1.1Ics page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:274090
Parent Cell Line:  MC1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsTwo successive stop codons were inserted in exon 32 of the gene. The mutations introduced were c.6052C > T (p.Arg2018*), corresponding to c.6091C > T (p.Arg2031*) in human and c.6061C > T (p.Gln2021*), corresponding to c.6100C > T (p.Arg2034*) in human. An adjacent frt-flanked neomycin resistance cassette was removed via FLP-mediated recombination. (J:274090)
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 Spg11 Mutation:  85 strains or lines available
References
Original:  J:274090 Branchu J, et al., Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration. Neurobiol Dis. 2017 Jun;102:21-37
All:  5 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
03/25/2025
MGI 6.24
The Jackson Laboratory