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Lrrk2tm1.1Dlbe
Targeted Allele Detail
Summary
Symbol: Lrrk2tm1.1Dlbe
Name: leucine-rich repeat kinase 2; targeted mutation 1.1, Deanna L. Benson
MGI ID: MGI:6273307
Synonyms: G2019S, GSKI
Gene: Lrrk2  Location: Chr15:91557378-91700323 bp, + strand  Genetic Position: Chr15, 46.07 cM, cytoband F1
Alliance: Lrrk2tm1.1Dlbe page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:234639
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6NTac
Mutation
description
Allele Type:    Targeted (Constitutively active)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsExon 41 was replaced with one containing GGG to TCA nucleotide substitutions which results in a glycine to serine change at amino acid 2019 (G2019S). A loxP and frt-flanked PGK-neomycin cassette were inserted into intron 41 and another loxP site was inserted in intron 42. Flp-mediated recombination removed the neomycin cassette. This is a gain-of-kinase function mutation. (J:234639)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Lrrk2 Mutation:  156 strains or lines available
References
Original:  J:234639 Matikainen-Ankney BA, et al., Altered Development of Synapse Structure and Function in Striatum Caused by Parkinson's Disease-Linked LRRK2-G2019S Mutation. J Neurosci. 2016 Jul 6;36(27):7128-41
All:  4 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
04/23/2024
MGI 6.23
The Jackson Laboratory