# Eye Mutant Resource

> **NIH NIH R01** · JACKSON LABORATORY · 2021 · $520,121

## Abstract

PROJECT SUMMARY/ABSTRACT
 Throughout the literature there are a myriad of examples of mouse models playing a central role in
furthering our understanding of human diseases. Therefore, the need for mouse models, with their well-
developed genetics and similarity to human physiology and anatomy, is clear. Mice carrying mutations that
alter developmental pathways or cellular function provide model systems for analyzing defects in comparable
human disorders and for serving as a resource to test therapeutic strategies. Mutant mice also provide
reproducible, experimental systems for elucidating pathways of normal development and function, and of
pathological responses. The primary objective of the Eye Mutant Resource (EMR) at The Jackson Laboratory
is to discover, characterize and preserve mice with ocular disorders and to make them available to the vision
research community. The EMR has distributed 35 mouse models of ocular disease to the vision research
community and has also contributed to the development of many new therapies. For example, by using
Gnat1rd17Gnat2cpfl3 double mutant mice from the EMR, researchers restored some vision in mice with a
congenital blindness by changing Müller glia, which are supportive cells in the retina, into light-sensing cells.
The findings may help advance the development of regenerative therapies for blinding eye diseases.
 In this application, we aim to screen for additional ocular mutants and characterize, at the clinical and
molecular level, subretinal neovascularization and glaucoma models previously identified in our screening
program. Aberrant neovascular growth is a serious complication in many eye diseases, such as retinopathy of
prematurity, diabetic retinopathy, wet age-related macular degeneration (AMD), neovascular-associated
geographic atrophy, and certain inherited retinopathies, causing significant vision impairment and blindness.
Glaucoma is expected to reach a global prevalence of 111.8 million by 2040. These models may identify novel
molecules/pathways involved in the respective diseases and provide a resource for further in-depth research
and a platform to test therapeutic strategies. We will also continue our distribution of ocular mouse models and
work toward enhancing the EMR and making it more self-sufficient. The Jackson Laboratory (JAX), with the
world's largest collection of mouse mutant stocks and genetically diverse inbred strains, is an ideal
environment to discover genetically determined ocular variations and disorders. It is also an ideal place to site
the repository from which ocular models can be distributed to investigators to support and promote vision
research world-wide. The technical expertise, economies of scale, and networks for resource distribution at
JAX enhance the quality and the likelihood of continued success of the Eye Mutant Resource (EMR).

## Key facts

- **NIH application ID:** 10220980
- **Project number:** 5R01EY019943-12
- **Recipient organization:** JACKSON LABORATORY
- **Principal Investigator:** BO CHANG
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $520,121
- **Award type:** 5
- **Project period:** 2010-02-01 → 2023-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10220980

## Citation

> US National Institutes of Health, RePORTER application 10220980, Eye Mutant Resource (5R01EY019943-12). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10220980. Licensed CC0.

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