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Updated: Feb 23, 2026
In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography
Published on: July 24, 2020
Mouse models of human ocular disease for translational research
Mark P Krebs1, Gayle B Collin1, Wanda L Hicks1
1The Jackson Laboratory, Bar Harbor, Maine, United States of America.
Abstract:
Mouse models provide a valuable tool for exploring pathogenic mechanisms underlying inherited human disease. Here, we describe seven mouse models identified through the Translational Vision Research Models (TVRM) program, each carrying a new allele of a gene previously linked to retinal developmental and/or degenerative disease. The mutations include four alleles of three genes linked to human nonsyndromic ocular diseases (Aipl1tvrm119, Aipl1tvrm127, Rpgrip1tvrm111, RhoTvrm334) and three alleles of genes associated with human syndromic diseases that exhibit ocular phentoypes (Alms1tvrm102, Clcn2nmf289, Fkrptvrm53). Phenotypic characterization of each model is provided in the context of existing literature, in some cases refining our current understanding of specific disease attributes. These murine models, on fixed genetic backgrounds, are available for distribution upon request and may be useful for understanding the function of the gene in the retina, the pathological mechanisms induced by its disruption, and for testing experimental approaches to treat the corresponding human ocular diseases.
Insights
Seven new mouse models carrying novel gene alleles offer insights into inherited retinal diseases. These models aid in understanding disease mechanisms and testing potential treatments for human ocular conditions.
Area of Science:
- Ophthalmology
- Genetics
- Translational Research
Background:
- Inherited retinal diseases pose significant challenges in human health.
- Mouse models are crucial for dissecting pathogenic mechanisms of human genetic disorders.
- The Translational Vision Research Models (TVRM) program aims to develop novel models for ocular diseases.
Purpose of the Study:
- To introduce and characterize seven novel mouse models with unique alleles of genes linked to retinal diseases.
- To provide a resource for studying the function of specific genes in retinal development and degeneration.
- To facilitate the investigation of pathological mechanisms and therapeutic strategies for human ocular conditions.
Main Methods:
- Identification and generation of seven mouse models with new alleles of disease-associated genes.
- Phenotypic characterization of each mouse model.
- Comparison of findings with existing literature on human ocular diseases.
Main Results:
- Detailed phenotypic characterization of four models for nonsyndromic ocular diseases (Aipl1, Rpgrip1, Rho) and three models for syndromic diseases with ocular phenotypes (Alms1, Clcn2, Fkrp).
- Refinement of understanding for specific disease attributes through detailed analysis.
- Availability of these genetically defined mouse models for research.
Conclusions:
- The described mouse models represent valuable tools for advancing the understanding of inherited retinal diseases.
- These models can elucidate gene function, disease pathology, and serve as platforms for therapeutic development.
- The TVRM program successfully generated critical resources for vision research.
