Synj1^tm2.1Pdc
Targeted Allele Detail

Summary

• Symbol: Synj1^tm2.1Pdc
• Name: synaptojanin 1; targeted mutation 2.1, Pietro De Camilli
• MGI ID: MGI:6120537
• Synonyms: SJ1^RQ
• Gene: Synj1 Location: Chr16:90732980-90808196 bp, - strand Genetic Position: Chr16, 52.18 cM, cytoband C3-C4
• Alliance: Synj1^tm2.1Pdc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:256037
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6J)F1

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Single point mutation
• Mutation details: An arginine to glutamine substitution was introduced at position 259 (CGG > CAG) and an FRT flanked neo cassette was inserted 258bp downstream of exon 5 via homologous recombination. Flp-mediated recombination removed the neo cassette. The inserted mutation corresponds to the human R258Q mutation in early onset Parkinson patients. This mutation abolishes the phosphatase activity of the SAC domain in humans. (J:256037)

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 Synj1 Mutation: 71 strains or lines available

Notes

ES cell line = G1 (129S6/SvEvTac x C57BL/6J)F1

References

• Original: J:256037 Cao M, et al., Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses and Triggers Dystrophic Changes in Dopaminergic Axons. Neuron. 2017 Feb 22;93(4):882-896.e5
• All: 2 reference(s)