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Updated: Jun 15, 2026
09:37
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Mouse phenogenomics, toolbox for functional annotation of human genome
Il Yong Kim1, Jae Hoon Shin, Je Kyung Seong
1Laboratory of Developmental Biology and Genomics, BK21 Program for Veterinary Science, Institute for Veterinary Science, College of Veterinary Medicine, Seoul National University, Seoul 151-742, Korea.
BMB Reports
|March 3, 2010
Summary
Genetically engineered mice (GEM) aid human genome research. Systematic phenotype analysis of GEM is now critical to overcome limitations and advance disease research.
Area of Science:
- Genomics
- Molecular Biology
- Translational Medicine
Background:
- Genetically engineered mice (GEM) are vital tools for understanding human disease pathogenesis.
- International efforts aim to create mutations in every mouse gene for functional genomics.
Purpose of the Study:
- To review current systematic mouse phenotype analysis methods.
- To provide an issue-oriented perspective on phenotyping bottlenecks.
Main Methods:
- Review of current literature on systematic mouse phenotype analysis.
- Analysis of challenges and advancements in mouse functional genomics.
Main Results:
- Production of GEM has advanced, shifting the bottleneck to phenotype analysis.
- Standardized, comprehensive, and reproducible phenotyping is essential for data sharing.
Conclusions:
- Systematic mouse phenotype analysis is a prerequisite for effective functional genomics.
- Addressing phenotyping challenges is key to maximizing the utility of GEM for human disease research.
Related Concept Videos
02:46Genetic Screens
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
03:36Genome Annotation and Assembly
The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.