Khdrbs2^{Tg(LRRK2*R1441G)135Cjli}
Transgenic Allele Detail

Summary

• Symbol: Khdrbs2^{Tg(LRRK2*R1441G)135Cjli}
• Name: KH domain containing, RNA binding, signal transduction associated 2; transgene insertion 135, Chenjian Li
• MGI ID: MGI:3847811
• Synonyms: LRRK2^R1441G, TG-RP135
• Gene: Khdrbs2 Location: Chr1:32211795-32697649 bp, + strand Genetic Position: Chr1, 11.86 cM, cytoband B
• Alliance: Khdrbs2^{Tg(LRRK2*R1441G)135Cjli} page

Transgene origin

• Strain of Origin: FVB/NTac

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence, Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Khdrbs2^{Tg(LRRK2*R1441G)135Cjli} expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  LRRK2 (120892)

  Lrrk2

  (MGI:1913975)

• Mutation details: A human bacterial artificial chromosome (BAC) library (CHORI) was used to obtain a 188 kb BAC containing the entire human LRRK2 (leucine-rich repeat kinase 2) gene with 29 kb upstream of the LRRK2 start codon and 42 kb downstream of the LRRK2 stop codon. Bioinformatics analysis predicted that no other genes are present in the BAC. This BAC was modified by targeted mutation of the LRRK2 locus to harbor the LRRK2 R1441G (4321C>G) mutation associated with autosomal dominant, late-onset Parkinson's disease originally identified in Spanish families originating from the Basque region. Line 135 inserted into an intron of the gene at 32289302-32289738 (Build GRCm38/mm10) resulting in a 436 bp deletion. The deletion results in a functional knock-out of Khdrbs2 in homozygous mice. Founder line 135 has a copy number of greater than 5. (J:149135)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Khdrbs2 Mutation: 25 strains or lines available

References

• Original: J:149135 Li Y, et al., Mutant LRRK2(R1441G) BAC transgenic mice recapitulate cardinal features of Parkinson's disease. Nat Neurosci. 2009 Jun 7;12(7):826-8
• All: 17 reference(s)