StriatechJournal Club

Visual Acuity as a Relevant Phenotype in Mouse Models of Rare Disease

Zoë Bichler, PhD - The Jackson Laboratory
Maximiliano Presa, PhD - The Jackson Laboratory

Live date was Oct 08th, 2020

Missed the live date? Don't worry!

Scroll down to watch the event.

Watch below


The Jackson Laboratory (JAX) is integrating mouse genetics and human genomics to decipher the genetic and molecular causes of human health and disease. JAX supports the global biomedical research community by developping and sharing research, tools and solutions, data resources, and more than 11,000 specialized mouse models.

In today’s presentation, we will briefly introduce the Center for Biometric Analysis (CBA), which includes several phenotyping cores, and in particular the Neurobehavior Phenotyping Core (NBP). We show how we have validated visual acuity measurements at the NBP. We will present two projects where visual acuity measurements have been valuable for characterizing progression in rare diseases:

  • Use of visual acuity test in a mouse model for Charcot-Marie-Tooth disease (CMT2a), a hereditary motor and sensory neuropathy of the peripheral nervous system.
  • Visual acuity test applications to preclinical testing of gene therapy for Multiple Sulfatase Deficiency (MSD), a lysosomal storage disease.

Key Topics

  • Validation of visual acuity measurements at JAX
  • Application of visual acuity measurements to
    • characterization of new mouse models for human diseases
    • preclinical evaluation of gene therapies

Learning Objectives

  • Understand how JAX validates tests, analyzes data and offers services to researchers.
  • Present practical applications of visual acuity test as reliable method for retinopathy assessments.

About the speaker

Zoë Bichler, PhD

Zoë Bichler, PhD

Senior Manager
Head of the Neurobehavioral Phenotyping Core at the Center for Biometric Analysis

The Jackson Laboratory


My research interests relate to understanding the behavioral and biochemical characteristics of psychiatric and neurodegenerative diseases, as a strategy to discover therapeutic agents and improve medical care. During my career, I have developed a strong expertise in pre-clinical studies, establishing, running, troubleshooting and teaching neurobehavioral assays, as well as advising on the best experimental design, and developing new technical setups. Trained in the fields of neuroscience, immunology, cardiology and metabolism, including microbiome research, I favor a multidisciplinary approach to solving scientific problems.

Maximiliano Presa, PhD

Maximiliano Presa, PhD

Technology and Resource Development Scientist
The Jackson Laboratory


My research is focused in the development and characterization of new mouse models for human diseases. We are applying cutting-edge CRISPR/Cas9-based genome editing technology for a precise engineering of the mouse genome with the goal of reproducing human clinical alleles (knock in and knock out models). Together with the generation of transgenic mouse models expressing human gene variants, we are expanding the genetic tools available for the scientific community in areas like ALS, Charcot-Marie-Tooth, lysosomal storage diseases and several others rare disorders. Our validation process starts with a general molecular analysis based on gene expression and protein analysis as well as molecular markers relevant to the disease. The process is followed for a rigorous biometric analysis where we look for survival, growth and behavioral phenotypes. We also complement our analysis with electrophysiology, in vivo imaging and histopathology assessments. Our team is highly specialized in downstream in vivo applications for pre-clinical testing of new compounds and treatments. We have succeeded in pre-clinical gene therapy studies for Charcot-Marie-Tooth-type-4J and currently ongoing gene therapy for multiple sulfatase deficiency (MSD). Thus, we are contributing to the research community with better mouse models and setting new platforms for future development of more precise therapeutic strategies.

Watch the Presentation

Other Journal Clubs and Webinars