Special Issue "Resource of Genetic Robustness: Loss-of-Function Mouse Mutant Alleles with no Apparent Phenotype"

A special issue of J (ISSN 2571-8800).

Deadline for manuscript submissions: closed (15 November 2018) | Viewed by 4736

Special Issue Editors

Transgenerational Epigenetics & Small RNA Biology, Sorbonne Université, CNRS, Laboratoire Biologie du Développement, Institut de Biologie Paris-Seine, UMR7622, 75005 Paris, France
Interests: long non-coding RNAs; small non-coding RNAs; functional genomics; transcriptional regulation; RNA secondary structure; RNA–protein interactions
Special Issues, Collections and Topics in MDPI journals
Evotec International GmbH, Marie-Curie-Straße 7, D-37079 Göttingen, Germany
Interests: mouse models; recombineering technology; CRISPR/Cas9 technology; Cas9-screens; dCas9-imaging; general regulation of transcription and epigenesis
Special Issues, Collections and Topics in MDPI journals
Dr. Jean-François Ouimette
E-Mail Website
Guest Editor
UMR7216 Epigenetics and Cell Fate, University of Paris Diderot - Paris 7, Lamarck Building, 35 rue Hélène Brion, 75013 Paris, France
Interests: developmental biology; functional genomics; long non-coding RNAs; epigenetics; transcriptional regulation; genome organization; evolution; endocrinology; genome engineering

Special Issue Information

Dear Colleagues,

This Special Issue aims to collect original research papers, short communications, and review articles that focus on knock-out mice with no apparent phenotype for the scientific community. While mouse models presenting a strong phenotype are often a key to elucidate any in vivo significance of a biological process, many models do not present a detectable phenotype. Publication of the latter is not always possible, and no good estimate exists as to how often those carefully-prepared and analyzed models are just unavailable to the scientific community. With this Special Issue, we want to create an easily-accessible resource that describes bona fide knock-out models with absent or very minor phenotypes, but that will reveal otherwise-unexpected genetic robustness.

This probably-ample repository will give invaluable information to researchers working in similar fields, and will help to broaden our understanding of complex models and potential pitfalls involved. We believe that this collection of open-access high-quality reports will, not only save time for researchers, but also will allow access to previously-inaccessible results.

Potential emphasis should focus on different categories of mouse models, and include, but not limited to, the following:

  • Knock-out mice with no apparent phenotype
  • Absence of phenotypic rescue by in vivo complementation
  • Genetic robustness (genetic redundancy between paralogous and/or non-paralogous genes)
  • Divergence between orthologous genes
  • Impact of genetic background
  • Reversion by mitotic recombination or viral sequence excision

Dr. Florent Hubé
Dr. Philip Hublitz
Dr. Jean-François Ouimette
Guest Editors

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. J is an international peer-reviewed open access quarterly 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 1200 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.


  • Generation and analysis of transgenic animal models
  • Knock-out mouse
  • Conditional alleles
  • No apparent phenotype
  • Unexpected lack of phenotype
  • Genetic robustness
  • Lack of phenotypic rescue

Published Papers (1 paper)

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14 pages, 2705 KiB  
Pathway Analysis of a Transcriptome and Metabolite Profile to Elucidate a Compensatory Mechanism for Taurine Deficiency in the Heart of Taurine Transporter Knockout Mice
J 2018, 1(1), 57-70; https://doi.org/10.3390/j1010007 - 27 Aug 2018
Cited by 2 | Viewed by 4252
Taurine, which is abundant in mammalian tissues, especially in the heart, is essential for cellular osmoregulation. We previously reported that taurine deficiency leads to changes in the levels of several metabolites, suggesting that alterations in those metabolites might compensate in part for tissue [...] Read more.
Taurine, which is abundant in mammalian tissues, especially in the heart, is essential for cellular osmoregulation. We previously reported that taurine deficiency leads to changes in the levels of several metabolites, suggesting that alterations in those metabolites might compensate in part for tissue taurine loss, a process that would be important in maintaining cardiac homeostasis. In this study, we investigated the molecular basis for changes in the metabolite profile of a taurine-deficient heart using pathway analysis based on the transcriptome and metabolome profile in the hearts of taurine transporter knockout mice (TauTKO mice), which have been reported by us. First, the genes associated with transport activity, such as the solute carrier (SLC) family, are increased in TauTKO mice, while the established transporters for metabolites that are elevated in the TauTKO heart, such as betaine and carnitine, are not altered by taurine deficiency. Second, the integrated analysis using transcriptome and metabolome data revealed significant increases and/or decreases in the genes involved in Arginine metabolism, Ketone body degradation, Glycerophospholipid metabolism, and Fatty acid metabolism in the KEGG pathway database. In conclusion, these pathway analyses revealed genetic compensatory mechanisms involved in the control of the metabolome profile of the taurine-deficient heart. Full article
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