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Lrrk2tm1.1Npa
Targeted Allele Detail
Summary
Symbol: Lrrk2tm1.1Npa
Name: leucine-rich repeat kinase 2; targeted mutation 1.1, Novartis Pharma AG
MGI ID: MGI:5295368
Synonyms: LRRK2-G2019S
Gene: Lrrk2  Location: Chr15:91557378-91700323 bp, + strand  Genetic Position: Chr15, 46.07 cM, cytoband F1
Alliance: Lrrk2tm1.1Npa page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:176679
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  BALB/c
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsExon 41 was replaced with a floxed modified exon 41 with nucleotide substitutions (GGG to TCG) that result in the amino acid substitution of serine for glycine at position 2019 (G2019S), mimicking a mutation found in some late-onset autosomal dominant Parkinson's Disease patients. An FRT-flanked neo cassette inserted downstream of the modified exon 41 was removed by flp-mediated recombination. The predicted protein is kinase enhanced. (J:176679)
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:176679 Herzig MC, et al., LRRK2 protein levels are determined by kinase function and are crucial for kidney and lung homeostasis in mice. Hum Mol Genet. 2011 Nov 1;20(21):4209-23
All:  8 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
03/12/2024
MGI 6.23
The Jackson Laboratory