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.

This CRISPR/Cas9 generated Chchd10del10 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&rsquo;s disease, and amyotrophic lateral sclerosis.

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C57BL/6NJ-Chchd10<em11Lutzy>/J Frozen Embryos