Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Mouse Models of Cancer Study

Mouse Models of Cancer Study

Mice have long served as models for studying human biology and pathology because of their phylogenetic and physiological similarity with humans. They are also easy to maintain and breed in the laboratory, and hence, many inbred strains are now available for research. Studies on mice have contributed immeasurably to our understanding of cancer biology.
The development of transgenic, knockout, and knock-in mice has led to an exponential increase in their use as model organisms in research,...

You might also read

Related Articles

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

Sort by

Same author

Establishment and characterization of three human pluripotent stem cell lines from patients with spinocerebellar ataxia 27B (SCA27B).

Stem cell research·2026

Same author

Establishment and characterization of two human pluripotent stem cell lines from patients with ATX-FGF14/spinocerebellar ataxia 27A (SCA27A).

Stem cell research·2026

Same author

Convergent human genetic evidence implicates serine biosynthesis in diabetic peripheral neuropathy.

medRxiv : the preprint server for health sciences·2026

Same author

Heterozygous <i>OGDH</i> Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy.

JIMD reports·2026

Same author

Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

Annals of neurology·2026

Same author

Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVAS.

Journal of neurology·2026

Search research articles

Related Experiment Video

Updated: Jul 1, 2025

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

Published on: June 15, 2018

Testing SIPA1L2 as a modifier of CMT1A using mouse models.

George C Murray^1,2, Timothy J Hines¹, Abigail L D Tadenev¹

¹The Jackson Laboratory, Bar Harbor, Maine, USA.

Journal of Neuropathology and Experimental Neurology

|March 13, 2024

Summary

Signal induced proliferation associated 1 like 2 (SIPA1L2) variants may modify Charcot-Marie-Tooth disease type 1A (CMT1A). Deleting Sipa1l2 in mice partially improved CMT1A neuropathy, suggesting a mild genetic interaction.

Keywords:

CMT1A Charcot-Marie-Tooth disease GWAS validation Genetic modifier Mouse models PMP22

More Related Videos

Cell-Type Specific Protein Purification and Identification from Complex Tissues Using a Mutant Methionine tRNA Synthetase Mouse Line

Cell-Type Specific Protein Purification and Identification from Complex Tissues Using a Mutant Methionine tRNA Synthetase Mouse Line

Published on: April 13, 2022

Video Imaging and Spatiotemporal Maps to Analyze Gastrointestinal Motility in Mice

Video Imaging and Spatiotemporal Maps to Analyze Gastrointestinal Motility in Mice

Published on: February 3, 2016

Related Experiment Videos

Last Updated: Jul 1, 2025

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

Published on: June 15, 2018

Cell-Type Specific Protein Purification and Identification from Complex Tissues Using a Mutant Methionine tRNA Synthetase Mouse Line

Cell-Type Specific Protein Purification and Identification from Complex Tissues Using a Mutant Methionine tRNA Synthetase Mouse Line

Published on: April 13, 2022

Video Imaging and Spatiotemporal Maps to Analyze Gastrointestinal Motility in Mice

Video Imaging and Spatiotemporal Maps to Analyze Gastrointestinal Motility in Mice

Published on: February 3, 2016

Area of Science:

Genetics
Neuroscience
Molecular Biology

Background:

Charcot-Marie-Tooth disease type 1A (CMT1A) is a genetic peripheral neuropathy caused by PMP22 duplication, leading to muscle weakness.
A genome-wide association study identified signal induced proliferation associated 1 like 2 (SIPA1L2) as a potential genetic modifier of CMT1A.

Purpose of the Study:

To validate SIPA1L2 as a genetic modifier of CMT1A.
To assess SIPA1L2's potential as a therapeutic target for CMT1A.

Main Methods:

Engineered mice with Sipa1l2 exon 1 deletion.
Crossed Sipa1l2-deleted mice with the C3-PMP22 mouse model of CMT1A.
Performed neuromuscular phenotyping and gene expression analysis.

Main Results:

Sipa1l2 deletion preserved muscular endurance in CMT1A mice.
Axon morphometrics, including myelin thickness, were altered by Sipa1l2 deletion.
Gene expression changes indicated SIPA1L2's involvement in cholesterol biosynthesis.

Conclusions:

Sipa1l2 deletion partially ameliorated CMT1A phenotypes, validating its role as a genetic modifier.
The study suggests a mild genetic interaction between Sipa1l2 and CMT1A.
SIPA1L2 may influence CMT1A through cholesterol biosynthesis pathways.