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Updated: Jul 21, 2025

Assessing Functional Performance in the Mdx Mouse Model

Assessing Functional Performance in the Mdx Mouse Model

Published on: March 27, 2014

Molecular and Phenotypic Changes in FLExDUX4 Mice.

Kelly Murphy¹, Aiping Zhang², Adam J Bittel²

¹Institute for Biomedical Sciences, The George Washington University, Washington, DC 20037, USA.

Journal of Personalized Medicine

|July 29, 2023

Summary

This summary is machine-generated.

Facioscapulohumeral muscular dystrophy (FSHD) research shows the FLExDUX4 mouse model exhibits progressive muscle pathology linked to low-level DUX4 gene expression, with males experiencing earlier, more severe symptoms.

Keywords:

DUX4 FLExDUX4 FSHD TDP-43 dystrophy facioscapulohumeral muscle muscular

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Area of Science:

Genetics and Molecular Biology
Neuromuscular Disorders
Animal Models of Disease

Background:

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder characterized by progressive muscle weakness.
Aberrant expression of the double homeobox 4 (DUX4) gene is the known cause of FSHD.
The FLExDUX4 mouse model harbors a DUX4 transgene with low-level expression, mimicking aspects of FSHD.

Purpose of the Study:

To longitudinally characterize phenotypes in the FLExDUX4 mouse model up to one year of age.
To investigate early transcriptomic alterations in muscle tissue using RNA-sequencing.
To assess the impact of sustained low-level DUX4 expression on muscle health and function.

Main Methods:

Longitudinal monitoring of FLExDUX4 mice up to 12 months of age.
Assessment of body weight, muscle weight, and grip strength.
Histopathological examination of muscle tissue, including myofiber typing and aggregate detection.
RNA-sequencing of muscle tissue from 2-month-old mice to analyze gene expression patterns.

Main Results:

Male FLExDUX4 mice displayed more severe phenotypes (lower body/muscle weight, reduced grip strength) at younger ages compared to females.
Muscle pathology, including fibrosis, myofiber size reduction (Type IIa/IIx), and TDP-43 aggregates (Type IIb), emerged in older mice.
Transcriptomic analysis revealed early molecular changes in pathways related to circadian rhythm and adipogenesis.

Conclusions:

The FLExDUX4 mouse model demonstrates a slow, progressive development of molecular and muscle phenotypes consistent with FSHD.
Low-level DUX4 expression drives gradual pathological changes, with sex-based differences in disease severity and onset.
Early molecular pathway alterations suggest potential therapeutic targets for FSHD intervention.