C57BL/6N-Prkn^em1Mjff/J

Stock number: 029317
Product name: Parkin W402A KI
Research areas: Neurobiology Research

Description

These CRISPR/Cas9 generated mice carry the Park2, Parkinson disease (autosomal recessive, juvenile) 2, parkin, W402A point mutation in exon 11. These mice may be useful in studies of Parkinson's disease and other neurobiological research.

Detailed description

CRISPR/cas9 endonuclease mediated genome editing of the Park2, Parkinson disease (autosomal recessive, juvenile) 2, parkin, gene was used to introduce a W402A point mutation (and a silent mutation) into exon 11. Mutations in this gene have been associated with Parkinson's disease and autosomal recessive juvenile Parkinson's disease. As the mice are characterized, we will modify the strain description and add phenotype data. Homozygotes are viable and fertile.

Development

Plasmids encoding a signal guide RNA designed to introduce the W402A point mutation and a silent mutation into exon 11 of the Park2 gene, oligonucleotide and the cas9 nuclease were introduced into the cytoplasm C57BL/6NTac-derived fertilized eggs with well recognized pronuclei. Correctly targeted embryos were transferred to pseudopregnant females. Correctly targeted pups were identified by sequencing and PCR and further bred to C57BL/6NTac to develop the colony. Upon arrival, sperm was cryopreserved. To establish our live colony, an aliquot of frozen sperm was used to fertilize C57BL/6NJ oocytes (Stock No. 005304).

Allele

Symbol: Prkn^em1Mjff
Name: endonuclease-mediated mutation 1, The Michael J Fox Foundation
MGI accession ID: MGI:5800702
Generation method: Endonuclease-mediated
Attributes: Not Applicable
Marker symbol: Prkn
Marker name: parkin RBR E3 ubiquitin protein ligase
Chromosome: 17
Strain of origin: C57BL/6NTac
Molecular note: The CRISPR/cas9 endonuclease mediated genome editing introduced a W402A amino acid substitution and a silent mutation into exon 11.