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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
FVB/NTac
--
Insertion, Intragenic deletion
--
1
--
17

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

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PMID
Journal
Year
IF
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