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Genetic Screens

Genetic 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...

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Forward Genetic Approach to Uncover Stress Resistance Genes in Mice — A High-throughput Screen in ES Cells

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A forward genetic screen in mice identifies mutants with abnormal cortical patterning.

Seungshin Ha¹, Rolf W Stottmann², Andrew J Furley³

¹Genetics Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, University of Washington School of Medicine, Seattle, WA 98101, USA.

Cerebral Cortex (New York, N.Y. : 1991)

|August 24, 2013

Summary

N-ethyl-N-nitrosourea mutagenesis identified novel mouse mutants with defects in cerebral cortex development. A reelin (Reln) mutation was found without cerebellar defects, highlighting new insights into neurodevelopmental disorders.

Keywords:

ENU mutagenesis cerebral cortex cortical lamination corticofugal axon reelin

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Published on: January 12, 2015

Area of Science:

Neuroscience
Developmental Biology
Genetics

Background:

Cerebral cortex development involves precise formation of a 6-layered cortical plate and axon tract patterning.
Disruptions in these processes are linked to human neurodevelopmental disorders.

Purpose of the Study:

To identify mouse mutants with defects in cortical lamination or corticofugal axon guidance using N-ethyl-N-nitrosourea (ENU) mutagenesis.
To utilize transgenic reporter lines (Rgs4-lacZ and TAG1-tau-lacZ) for visualizing specific cortical layers and axon tracts.

Main Methods:

Performed ENU mutagenesis on mice carrying LacZ reporter genes.
Screened for abnormal cortical lamination and corticofugal axon development.
Utilized whole-genome resequencing to identify causative mutations.

Main Results:

Identified four lines with abnormal cortical lamination, including a novel splice site mutation in reelin (Reln) causing C-terminal truncation.
This Reln mutant did not exhibit cerebellar malformation or ataxia, a unique phenotype.
Identified four lines with abnormal cortical axon development, one with a mutation in Lrp2.

Conclusions:

ENU mutagenesis with transgenic reporters is effective for discovering mutations affecting brain patterning.
The novel Reln allele provides new insights into reelin function and its role in neurodevelopment without causing cerebellar defects.