Lrrk2^tm1.1Npa
Targeted Allele Detail

Summary

• Symbol: Lrrk2^tm1.1Npa
• 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: Lrrk2^tm1.1Npa 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 details: Exon 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)

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: 159 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: 9 reference(s)