C57BL/6NJ-Chchd10^em11Lutzy/J

Stock number: 029033
Product name: Chchd10 del10

Research areas: Cell Biology Research, Neurobiology Research, Research Tools

Description

This CRISPR/Cas9 generated Chchd10^del10 allele has a 10 nucleotide deletion mutation. These mice may be useful in studies related to mitochondrial bioenergetics and pathogenesis of diseases such as mitochondrial myopathy, motor neuron disease, frontotemporal dementia, Parkinson’s disease, and amyotrophic lateral sclerosis.

Detailed description

CRISPR/cas9 endonuclease mediated genome editing of the Chchd10, coiled-coil-helix-coiled-coil-helix domain containing 10, gene was used to introduce a 10 nucleotide deletion mutation. The targeted Chchd10 gene encodes a mitochondrial intermembrane protein that is involved with mitochondrial cristae morphology and oxidative phosphorylation. Mutations in the human CHCHD10 gene can cause frontotemporal dementia and amyotrophic lateral sclerosis (ALS). Homozygotes are viable and fertile. As the mice are characterized, we will modify the strain description and add phenotype data.

Development

Plasmids encoding a signal guide RNA designed to introduce a 10 nucleotide deletion in the Chchd10 gene and the cas9 nuclease were introduced into the cytoplasm C57BL/6NJ-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/6NJ (Stock No. 005304) for 2 generations to develop the colony.

Allele

Symbol: Chchd10^em11Lutzy
Name: endonuclease-mediated mutation 11, Cathy Lutz
MGI accession ID: MGI:6295439
Generation method: Endonuclease-mediated
Attributes: Not Specified
Marker symbol: Chchd10
Marker name: coiled-coil-helix-coiled-coil-helix domain containing 10
Chromosome: 10
Strain of origin: C57BL/6NJ
Molecular note: CRISPR/Cas9 genome editing is used to introduce a 10 nucleotide deletion.