This CRISPR/Cas9 generated Chd8flox mutant of the Chd8 gene carries a floxed exon 3. This strain may be useful for generating conditional mutations in applications related to the study of chromatin remodeling and autism spectrum disorder.
Cathleen Lutz, The Jackson Laboratory
CRISPR/cas9 endonuclease mediated genome editing of the Chd8, chromodomain helicase DNA binding protein 8, gene, also known as Duplin, was used to introduce loxP sites flanking exon 3. The targeted Chd8 gene encodes a DNA helicase involved in epigenetic (chromatin) remodeling and transcriptional regulation. Mutations in this gene have been associated with autism spectrum disorder. These mice possess loxP sites on either side of exon 3 of the targeted gene. Mice that are homozygous for this allele are viable and fertile. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exon 3 deleted in the cre-expressing tissues. Removal of the floxed sequence creates a null allele. As the mice are characterized, we will modify the strain description and add phenotype data.
This model was generated in collaboration with the Simons Foundation Autism Research Initiative (SFARI).
Plasmids encoding a signal guide RNA designed to introduce loxP sites flanking exon 3 in the Chd8 gene and the cas9 nuclease were introduced into the cytoplasm C57BL/6J-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/6J (Stock No. 000664) for 2 generations to develop the colony (February 2019).
|Allele Name||endonuclease-mediated mutation 3, Cathy Lutz|
|Allele Type||Endonuclease-mediated (Conditional ready (e.g. floxed))|
|Gene Symbol and Name||Chd8, chromodomain helicase DNA binding protein 8|
|Strain of Origin||C57BL/6J|
|Molecular Note||CRISPR/Cas9 genome editing is used to introduce loxP sites flanking exon 3.|
When maintaining a live colony, these mice can be bred as homozygotes.
When using the Chd8 floxed mouse strain in a publication, please cite the originating article(s) and include JAX stock #031555 in your Materials and Methods section.