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Gene function: solving the puzzle is on the right track

3D imaging can reveal more precisely the complexity of embryonic development in mice with viable solutions to genetic analysis of broadband to understand gene function.

High-throughput discovery of novel developmental phenotypes.

Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A; International Mouse Phenotyping Consortium; Jackson Laboratory; Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource Center, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bucan M, Murray SA.

Nature Sept. 22, 2016

Sept. 22, 2016

As part of the International Mouse Phenotyping Consortium, the French National Infrastructure for mouse phenogenomics, PHENOMIN hosted by the Mouse Clinical Institute (IGBMC, UMR7104 CNRS, INSERM, and University of Strasbourg) has coordinated its efforts with 17 other centers to reveal the important role of almost 1 out of 4 genes for controlling normal development of the mouse embryo. These results were published in Nature on September 22th.



The Human genome is composed of about 25 000 genes. These pieces of DNA gives accurate information for the functioning of the body, similar to a recipe for cooking. Being able to breathe, to have green eyes or to walk and to develop from one cell to a newborn reflects a perfect functioning of all these recipes. Sometimes all this machinery is not working properly (if a gene is not or poorly expressed) and disease or embryonic development problems may appear.


The mouse is a well-known mammals for biological analyses and serves as a model for many diseases. The duration of its intrauterine development is 19 days. The mouse also represents the second mammalian species for which genome sequencing was completed. In mice, the total number of protein coding genes is about 23 000 and more than 98% of mouse genes are homologous to human genes. Recent studies of 1751 genetic inactivation show that among those 410 genes are involved in embryonic development; their inactivation leading to altered development and/or embryonic death.


Towards a better diagnosis of diseases causing birth defects in humans

Through a study of high resolution 3D platform, new phenotypes for already known genes were revealed. New genes involved in several developmental processes have also been identified by several laboratories including the Mouse Clinical Institute - PHENOMIN. Genes essential for development are mostly devoid of functional redundancy. Homologous human genes are involved in many diseases. They are also much more intolerant to natural mutations and therefore have a major impact on human health.


This information will enrich our knowledge of the genetic control of embryonic development. These results constitute a first step toward improvement for the diagnosis of diseases causing birth defects or developmental disorders in humans.


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