Publication Date

9-30-2024

Journal

Scientific Reports

DOI

10.1038/s41598-024-72418-8

PMID

39349521

PMCID

PMC11443006

PubMedCentral® Posted Date

9-30-2024

PubMedCentral® Full Text Version

Post-print

Published Open-Access

yes

Keywords

Animals, Genes, Essential, Mice, Gene Editing, Mice, Knockout, CRISPR-Cas Systems, Alleles, Mice, Inbred C57BL, Male, Female, Genetic Engineering, Phenotype, Cas9, Genome editing, Mouse, Genetics, Genetic engineering

Abstract

The International Mouse Phenotyping Consortium (IMPC) systematically produces and phenotypes mouse lines with presumptive null mutations to provide insight into gene function. The IMPC now uses the programmable RNA-guided nuclease Cas9 for its increased capacity and flexibility to efficiently generate null alleles in the C57BL/6N strain. In addition to being a valuable novel and accessible research resource, the production of 3313 knockout mouse lines using comparable protocols provides a rich dataset to analyze experimental and biological variables affecting in vivo gene engineering with Cas9. Mouse line production has two critical steps - generation of founders with the desired allele and germline transmission (GLT) of that allele from founders to offspring. A systematic evaluation of the variables impacting success rates identified gene essentiality as the primary factor influencing successful production of null alleles. Collectively, our findings provide best practice recommendations for using Cas9 to generate alleles in mouse essential genes, many of which are orthologs of genes linked to human disease.

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