Lrrk2^tm1Hmgu
Targeted Allele Detail

Summary

• Symbol: Lrrk2^tm1Hmgu
• Name: leucine-rich repeat kinase 2; targeted mutation 1, Wolfgang Wurst
• MGI ID: MGI:6273237
• Synonyms: LRRK2 R1441C
• Gene: Lrrk2 Location: Chr15:91557378-91700323 bp, + strand Genetic Position: Chr15, 46.07 cM, cytoband F1
• Alliance: Lrrk2^tm1Hmgu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:268730
• Parent Cell Line: TBV2 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Conditional ready, Hypomorph)
• Mutation: Single point mutation
• Mutation details: A loxP site was inserted into intron 30 and a second loxP site and a neomycin resistance gene cassette into intron 31. Exon 31 was modified (c.4321C>T substitution) to change codon 1441 from arginine to cysteine (p.Arg1441Cys). In the translated peptide this amino-acid is located in the Roc/GTPase domain. Radioactive in situ hybridization (ISH) showed no changes in the pattern of mRNA expression in the adult CNS. The mRNA level in the striatum was also unchanged compared to wild-type. (J:268730)

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: 160 strains or lines available

References

• Original: J:268730 Giesert F, et al., The pathogenic LRRK2 R1441C mutation induces specific deficits modeling the prodromal phase of Parkinson's disease in the mouse. Neurobiol Dis. 2017 Sep;105:179-193
• All: 1 reference(s)