Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Comparison of Deep Learning Tools for Optic Nerve Axon Quantification Finds Limited Generalizability Upon Independent Validation.

Bioengineering (Basel, Switzerland)·2026

Same author

Genome-Wide Annotation of Promoter-Enhancer Interactions via Chromatin Loops in the Hybrid Rat Diversity Panel.

bioRxiv : the preprint server for biology·2026

Same author

Dynamics of genetic and somatic trade-offs in ageing and mortality.

Nature·2026

Same authorSame journal

Analysis of retinal ganglion cell subtypes across six different inbred mouse strains.

Molecular vision·2026

Same author

Mouse Predation is Dependent on a Population of POU6F2-Positive Retinal Ganglion Cells.

bioRxiv : the preprint server for biology·2026

Same author

Heat shock protein 40 enhances axon regeneration in a mouse model of traumatic optic neuropathy.

Neural regeneration research·2026

Search research articles

Related Experiment Video

Updated: Dec 26, 2025

Mouse Eye Enucleation for Remote High-throughput Phenotyping

Mouse Eye Enucleation for Remote High-throughput Phenotyping

Published on: November 19, 2011

Using BXD mouse strains in vision research: A systems genetics approach.

Eldon E Geisert¹, Robert W Williams²

¹Department of Ophthalmology, Emory University, 1365B Clifton Road NE Atlanta GA, 30322.

Molecular Vision

|March 18, 2020

Summary

The BXD mouse model and bioinformatics tools reveal genetic links to glaucoma. Key genes like Cadherin 11 and Cacna2d1 influence intraocular pressure and retinal cell survival in glaucoma.

More Related Videos

Using Looming Visual Stimuli to Evaluate Mouse Vision

Using Looming Visual Stimuli to Evaluate Mouse Vision

Published on: June 13, 2019

Optimization of the Retinal Vein Occlusion Mouse Model to Limit Variability

Optimization of the Retinal Vein Occlusion Mouse Model to Limit Variability

Published on: August 6, 2021

Related Experiment Videos

Last Updated: Dec 26, 2025

Mouse Eye Enucleation for Remote High-throughput Phenotyping

Mouse Eye Enucleation for Remote High-throughput Phenotyping

Published on: November 19, 2011

Using Looming Visual Stimuli to Evaluate Mouse Vision

Using Looming Visual Stimuli to Evaluate Mouse Vision

Published on: June 13, 2019

Optimization of the Retinal Vein Occlusion Mouse Model to Limit Variability

Optimization of the Retinal Vein Occlusion Mouse Model to Limit Variability

Published on: August 6, 2021

Area of Science:

Genetics
Ophthalmology
Bioinformatics

Background:

Glaucoma is a complex disease influenced by genetic and environmental factors.
Understanding genome-phenome relationships is crucial for developing precision medicine approaches to glaucoma.
The BXD mouse family offers a powerful resource for dissecting genetic contributions to complex traits.

Purpose of the Study:

To leverage the BXD mouse model and bioinformatics tools to identify genes associated with glaucoma risk factors.
To investigate the role of specific genes in modulating intraocular pressure (IOP), central corneal thickness (CCT), and retinal ganglion cell (RGC) susceptibility.
To establish genetic links between identified variants and glaucoma in human populations.

Main Methods:

Utilized the BXD recombinant inbred mouse strains and associated bioinformatic tools.
Integrated data on visual system traits, including IOP, CCT, and RGC stress susceptibility.
Performed genetic linkage analysis to identify candidate genes and validated findings in human glaucoma cohorts.

Main Results:

Identified Cadherin 11 (Cdh11) and a calcium channel (Cacna2d1) as genes modulating IOP.
Discovered Pou6f2 as a genetic link between CCT and RGC death.
Found Aldh7a1 modulates RGC susceptibility to death following elevated IOP.

Conclusions:

The BXD mouse model and bioinformatics tools are effective for studying glaucoma-related genome-phenome interactions.
Specific genes (Cdh11, Cacna2d1, Pou6f2, Aldh7a1) play significant roles in glaucoma pathogenesis.
This approach advances precision medicine for glaucoma by identifying key genetic variants and pathways.