Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Pleiotropy01:33

Pleiotropy

40.6K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.6K
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

6.6K
Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
6.6K

You might also read

Related Articles

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

Sort by
Same author

Use of organ transplant solution to preserve skeletal muscle for cellular and spatial transcriptomic analyses.

Scientific reports·2026
Same author

A schema‑based dual‑path model linking service innovation to revisit intention with proactive personality as a moderator.

Scientific reports·2026
Same author

Integrative analysis of gastric tissue transcriptomes and gastric cancer GWAS implicates candidate susceptibility genes.

American journal of human genetics·2026
Same author

Turning poison into power: <i>in situ</i> carbon nanotube-promoted microwave absorption sustains high-efficiency methane dry reforming.

Chemical communications (Cambridge, England)·2026
Same author

Unraveling the cardiovascular burden of long COVID: symptom profiles, underlying mechanisms, and clinical management insights.

Frontiers in cardiovascular medicine·2026
Same author

Vegetation restoration restructures soil sulfur allocation and sulfur-cycling functional potential in the Mu Us Sandy Land.

Frontiers in microbiology·2026

Related Experiment Video

Updated: Jul 21, 2025

Assessing Functional Performance in the Mdx Mouse Model
10:32

Assessing Functional Performance in the Mdx Mouse Model

Published on: March 27, 2014

32.6K

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
PubMed
Summary

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:
DUX4FLExDUX4FSHDTDP-43dystrophyfacioscapulohumeralmusclemuscular

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.7K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.7K

Related Experiment Videos

Last Updated: Jul 21, 2025

Assessing Functional Performance in the Mdx Mouse Model
10:32

Assessing Functional Performance in the Mdx Mouse Model

Published on: March 27, 2014

32.6K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.7K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.7K

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.