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.
Gretchen Kusek, Taconic Biosciences
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.
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 Name||endonuclease-mediated mutation 1, The Michael J Fox Foundation|
|Allele Type||Endonuclease-mediated (Not Applicable)|
|Allele Synonym(s)||Parkin W402A KI|
|Gene Symbol and Name||Prkn, parkin RBR E3 ubiquitin protein ligase|
|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.|
When maintaining a live colony, these mice can be bred as homozygotes.
As the mice are characterized, we will modify the strain description if necessary and add data related to viability and fertility.
When using the Parkin W402A KI mouse strain in a publication, please cite the originating article(s) and include JAX stock #029317 in your Materials and Methods section.