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Updated: Jun 25, 2026
12:04
Mouse Genome Engineering Using Designer Nucleases
Published on: April 2, 2014
A mouse chromosome 4 balancer ENU-mutagenesis screen isolates eleven lethal lines
Melissa K Boles1, Bonney M Wilkinson, Andrea Maxwell
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. mb144070@bcm.tmc.edu
BMC Genetics
|March 10, 2009
Summary
Ethylnitrosourea (ENU) mutagenesis identified 11 lethal mouse lines affecting embryonic development on chromosome 4. This method efficiently generates and maps new models for studying mammalian developmental defects.
Area of Science:
- Developmental Biology
- Genetics
- Mammalian Genetics
Background:
- Ethylnitrosourea (ENU) mutagenesis is a key technique for identifying genes involved in mammalian development.
- Functional annotation of mouse chromosome 4's distal region was pursued using this method.
Purpose of the Study:
- To identify novel genes regulating mammalian development in the distal region of mouse chromosome 4.
- To establish new mouse models for studying developmental defects.
Main Methods:
- An ENU-mutagenesis screen was conducted.
- A balancer chromosome targeting the distal region of mouse chromosome 4 was employed.
- Complementation analysis was used to group mutations.
Main Results:
- Eleven lethal mouse lines were isolated, mapping to mouse chromosome 4 (D4Mit117-D4Mit281).
- These lines formed 10 complementation groups, with most exhibiting embryonic lethality (E5.5-E12.5) and defects in gastrulation, cardiac, and craniofacial development.
- One line showed postnatal lethality with neurological deficits, including ataxia and seizures.
Conclusions:
- The identified mutants provide tools to investigate gene function in distal mouse chromosome 4.
- ENU-mutagenesis combined with balancer chromosomes efficiently generates and maps models for mammalian developmental defects.
- The low mutation yield suggests regional variation in gene function importance within the genome.
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