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Synj1tm2.1Pdc
Targeted Allele Detail
Nomenclature
Symbol: Synj1tm2.1Pdc
Name: synaptojanin 1; targeted mutation 2.1, Pietro De Camilli
MGI ID: MGI:6120537
Synonyms: SJ1RQ
Gene: Synj1  Location: Chr16:90936092-91011308 bp, - strand  Genetic Position: Chr16, 52.18 cM, cytoband C3-C4
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 detailsAn 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:  7 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:  1 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
08/06/2019
MGI 6.14
The Jackson Laboratory