Visible traits demonstrate that crispant founder mice can be used for phenotypic assessment
Tillotson, R.; Gertsenstein, M.; Chang, L.-H.; Ruston, J.; Bellido Molias, F.; Lintott, L. G.; Taylor, C.; Gautier, P.; Nutter, L. M.; Justice, M. J.
Show abstract
Genes can be knocked out in model organisms by introducing a single guide RNA and Cas9 into one cell zygotes. Recently, the zebrafish and Xenopus communities have employed this method in genetic screening pipelines that assess phenotypes in founders (F0), referred to as "crispants". In contrast, phenotyping crispant mice has been avoided as results are believed to be confounded by genetic mosaicism, requiring that only established mouse lines undergo phenotypic assessment. Here, we targeted seven genes associated with visible recessive phenotypes. We observed the expected null phenotype in up to 100% founders per gene. Crucially, we achieved 100% editing efficiency in all but two animals. Genetic mosaicism was common, but did not confound an animals phenotype when comprised of mutations that all disrupted the targeted gene. Mosaicism included short in-frame mutations, but these were sufficient to disrupt function of five genes. Several founders were compound heterozygotes carrying a null and a non-null allele (short in-frame mutation or late truncation), enabling functional assessment of the non-null allele to dissect protein function. Our results set the stage for using crispant founders for initial phenotypic assessment in genetic screening, before selecting candidates for further study. This will dramatically reduce animal numbers.
Matching journals
The top 4 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy 95%
- High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency 95%
- Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis 95%
Similar papers in this journal
- Trans-generational maintenance of mitochondrial DNA integrity in oocytes during early folliculogenesis 95%
- Application of long-read sequencing for robust identification of correct alleles in genome edited animals 94%
- ZNF423 patient variants, truncations, and in-frame deletions in mice define an allele-dependent range of midline brain abnormalities 94%
Similar papers in this journal
- CRISPR/Cas9-Mediated Excision of ALS/FTD-Causing Hexanucleotide Repeat Expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro 96%
- Single generation allele introgression into pure chicken breeds using Sire Dam Surrogate (SDS) mating 96%
- Defective folate metabolism causes germline epigenetic instability and distinguishes Hira as a phenotype inheritance biomarker 95%
Similar papers in this journal
Similar papers in this journal
- CRISPR/Cas9 targeting Ttc30a mimics ciliary chondrodysplasia with polycystic kidney disease. 96%
- Dynamic regulation and requirement for ribosomal RNA transcription duringmammalian development 95%
- A preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition 95%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.