Spg11tm1.1Ics
Targeted Allele Detail
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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
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Alliance: |
Spg11tm1.1Ics page
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Germline Transmission: |
Earliest citation of germline transmission:
J:274090
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Parent Cell Line: |
MC1 (ES Cell)
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Strain of Origin: |
129S6/SvEvTac
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Allele Type: |
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Targeted (Null/knockout) |
Mutations: |
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Insertion, Nucleotide substitutions
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Mutation details: Two 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)
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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
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Carrying any Spg11 Mutation: |
85 strains or lines available
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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) |
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