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A Genetically Engineered Mouse Model of Sporadic Colorectal Cancer

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Mapping Genetic Modifiers of Polyp Formation in Smad4-Deficient Juvenile Polyposis Using the Collaborative Cross

Osayd Zohud¹, Kreem Midlej¹, Iqbal M Lone¹

¹Department of Clinical Microbiology and Immunology, Faculty of Medicine and Health Sciences, Tel-Aviv University, Tel-Aviv 6997801, Israel.

|May 27, 2026

Summary

Researchers identified genetic loci influencing intestinal polyp development in Juvenile Polyposis Syndrome (JPS) using a mouse model. These findings help explain variations in JPS and suggest new targets for therapy.

Keywords:

Smad4 knockout collaborative cross mice colorectal cancer genetic modifiers intestinal polyps juvenile polyposis syndrome quantitative trait loci

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Area of Science:

Genetics
Gastroenterology
Cancer Biology

Background:

Juvenile Polyposis Syndrome (JPS) is an inherited disorder with variable severity, often linked to SMAD4 gene mutations.
Genetic modifiers are suspected to influence the wide range of JPS symptoms and cancer risk.

Purpose of the Study:

To identify genetic loci that modify intestinal polyp development in a mouse model of JPS.
To understand the genetic basis for phenotypic variability in JPS.

Main Methods:

Crossed genetically diverse Collaborative Cross (CC) mice with Smad4 knockout mice.
Analyzed polyp development in 260 F1 offspring using quantitative trait locus (QTL) mapping.
Performed pathway enrichment analysis on identified genetic regions.

Main Results:

Identified significant quantitative trait loci (QTLs) on chromosomes 16, 14, and 12, named Ipsl1, Ipsl2, and Ipsl3.
Discovered sex-specific loci influencing polyp susceptibility in male and female mice.
Highlighted candidate genes involved in immune signaling, protein degradation, and metabolism.

Conclusions:

The genetic architecture of JPS is complex, involving multiple modifier loci.
Identified loci and candidate genes provide targets for further research into JPS pathogenesis.
Findings contribute to understanding JPS variability and may inform future therapeutic strategies.