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Genes
Special Issues
Transgenic Animal Models for Disease Research
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Transgenic Animal Models for Disease Research

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Transgenic Technology".

Deadline for manuscript submissions: closed (20 November 2022) | Viewed by 5225

Special Issue Editor

Dr. Guillaume Pavlovic

E-Mail Website
Guest Editor
PHENOMIN-Institut Clinique de la Souris, CELPHEDIA, CNRS, INSERM, Université de Strasbourg, Strasbourg, France
Interests: mouse genetics; microbiota; genome editing; CRISPR/Cas9; digital PCR; reproducibility

Special Issue Information

Dear Colleagues,

In 2002, the first sequencing and analysis of a mouse genome was published in the journal Nature by the Mouse Genome Sequencing Consortium. 20 years later, rodent models remain a major source for generating valid knowledge in basic and preclinical research. Never before have so many biological resources, often generated by large international consortia, and technological tools been available. Genome editing, single-cell sequencing, long-read NGS, microbiome discovery, or mRNA vaccines are just a few examples of technological developments that are literally reshaping research and human medicine. On the other side, the reproducibility crisis underlines the difficulty to replicate some scientific findings including rodent phenogenomics.

Possessing excellent knowledge of the available tools, their technical biases and scientific limitations is made difficult by the complexity and the growing number of available technologies.

The goal of this Special Issue is to provide knowledge on resources available and on the latest technologies and their reproducible use for rodent model research.

This Special Issue welcomes original research articles, reviews, mini-reviews and opinion articles related to:

  • Tools and technologies in rodent research
  • Understanding technical limitations
  • Standardization of research methods
  • Improving reproducibility and best reporting practices
  • Proposing guidelines
  • Available resources for the scientific community

Dr. Guillaume Pavlovic
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • mouse and rat phenogenomics
  • transgenic models
  • reproducibility
  • animal models for disease research
  • innovative tools
  • guidelines
  • resources

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Published Papers (2 papers)

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15 pages, 1815 KiB  
Article
Increased On-Target Rate and Risk of Concatemerization after CRISPR-Enhanced Targeting in ES Cells
by Valérie Erbs, Romain Lorentz, Benjamin Eisenman, Laurence Schaeffer, Laurence Luppi, Loic Lindner, Yann Hérault, Guillaume Pavlovic, Marie Wattenhofer-Donzé and Marie-Christine Birling
Genes 2023, 14(2), 401; https://doi.org/10.3390/genes14020401 - 3 Feb 2023
Cited by 1 | Viewed by 2617
Abstract
The French mouse clinic (Institut Clinique de la Souris; ICS) has produced more than 2000 targeting vectors for ‘à la carte’ mutagenesis in C57BL/6N mice. Although most of the vectors were used successfully for homologous recombination in murine embryonic stem cells (ESCs), a [...] Read more.
The French mouse clinic (Institut Clinique de la Souris; ICS) has produced more than 2000 targeting vectors for ‘à la carte’ mutagenesis in C57BL/6N mice. Although most of the vectors were used successfully for homologous recombination in murine embryonic stem cells (ESCs), a few have failed to target a specific locus after several attempts. We show here that co-electroporation of a CRISPR plasmid with the same targeting construct as the one that failed previously allows the systematic achievement of positive clones. A careful validation of these clones is, however, necessary as a significant number of clones (but not all) show a concatemerization of the targeting plasmid at the locus. A detailed Southern blot analysis permitted characterization of the nature of these events as standard long-range 5′ and 3′ PCRs were not able to distinguish between correct and incorrect alleles. We show that a simple and inexpensive PCR performed prior to ESC amplification allows detection and elimination of those clones with concatemers. Finally, although we only tested murine ESCs, our results highlight the risk of mis-validation of any genetically modified cell line (such as established lines, induced pluripotent stem cells or those used for ex vivo gene therapy) that combines the use of CRISPR/Cas9 and a circular double-stranded donor. We strongly advise the CRISPR community to perform a Southern blot with internal probes when using CRISPR to enhance homologous recombination in any cell type, including fertilized oocytes. Full article
(This article belongs to the Special Issue Transgenic Animal Models for Disease Research)
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15 pages, 4450 KiB  
Article
OCT and ERG Techniques in High-Throughput Phenotyping of Mouse Vision
by Jiri Lindovsky, Marcela Palkova, Viktoriia Symkina, Miles Joseph Raishbrook, Jan Prochazka and Radislav Sedlacek
Genes 2023, 14(2), 294; https://doi.org/10.3390/genes14020294 - 22 Jan 2023
Cited by 2 | Viewed by 2036
Abstract
The purpose of the study is to demonstrate coherent optical tomography and electroretinography techniques adopted from the human clinical practice to assess the morphology and function of the mouse retina in a high-throughput phenotyping environment. We present the normal range of wild-type C57Bl/6NCrl [...] Read more.
The purpose of the study is to demonstrate coherent optical tomography and electroretinography techniques adopted from the human clinical practice to assess the morphology and function of the mouse retina in a high-throughput phenotyping environment. We present the normal range of wild-type C57Bl/6NCrl retinal parameters in six age groups between 10 and 100 weeks as well as examples of mild and severe pathologies resulting from knocking out a single protein-coding gene. We also show example data obtained by more detailed analysis or additional methods useful in eye research, for example, the angiography of a superficial and deep vascular complex. We discuss the feasibility of these techniques in conditions demanding a high-throughput approach such as the systemic phenotyping carried out by the International Mouse Phenotyping Consortium. Full article
(This article belongs to the Special Issue Transgenic Animal Models for Disease Research)
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