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Updated: Mar 31, 2026
Author Spotlight: A Pipeline to Analyze Lineage-Specific Mutant Embryos at Single-Cell Resolution
Published on: June 14, 2024
Deciphering the mechanisms of developmental disorders: phenotype analysis of embryos from mutant mouse lines
Robert Wilson1, Christina McGuire2, Timothy Mohun2
1The Francis Crick Institute Mill Hill Laboratory, The Ridgeway, Mill Hill, London NW7 1AA, UK Robert.Wilson@crick.ac.uk.
Abstract:
The Deciphering the Mechanisms of Developmental Disorders (DMDD) consortium is a research programme set up to identify genes in the mouse, which if mutated (or knocked-out) result in embryonic lethality when homozygous, and initiate the study of why disruption of their function has such profound effects on embryo development and survival. The project uses a combination of comprehensive high resolution 3D imaging and tissue histology to identify abnormalities in embryo and placental structures of embryonic lethal lines. The image data we have collected and the phenotypes scored are freely available through the project website (http://dmdd.org.uk). In this article we describe the web interface to the images that allows the embryo data to be viewed at full resolution in different planes, discuss how to search the database for a phenotype, and our approach to organising the data for an embryo and a mutant line so it is easy to comprehend and intuitive to navigate.
Insights
The Deciphering the Mechanisms of Developmental Disorders (DMDD) consortium identifies mouse genes causing embryonic lethality. This research investigates how gene disruption impacts embryo development and survival, providing accessible data online.
Area of Science:
- Developmental Biology
- Genetics
- Embryology
Background:
- Understanding embryonic lethality is crucial for developmental biology.
- Identifying genes responsible for embryonic lethality aids in comprehending developmental processes.
- The Deciphering the Mechanisms of Developmental Disorders (DMDD) consortium aims to address these knowledge gaps.
Purpose of the Study:
- To identify genes in mice that cause embryonic lethality when mutated.
- To investigate the profound effects of gene function disruption on embryo development and survival.
- To make high-resolution 3D imaging and phenotype data freely available to the research community.
Main Methods:
- Utilizing comprehensive high-resolution 3D imaging and tissue histology.
- Analyzing embryo and placental structures of embryonic lethal mouse lines.
- Developing a web interface for accessing and navigating image data and phenotypes.
Main Results:
- Identification of specific genes leading to homozygous embryonic lethality.
- Detailed characterization of abnormalities in embryo and placental structures.
- A publicly accessible database (http://dmdd.org.uk) with image data and scored phenotypes.
Conclusions:
- The DMDD consortium provides a valuable resource for studying embryonic lethality.
- The developed web interface facilitates intuitive navigation and comprehension of complex embryo data.
- Freely available data promotes further research into developmental disorders and gene function.
