Spg11^tm1.1Ics
Targeted Allele Detail

Summary

• Symbol: Spg11^tm1.1Ics
• 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: Spg11^tm1.1Ics 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 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)

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: 6 reference(s)