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

Cystic Fibrosis: Pathogenesis

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...

You might also read

Related Articles

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

Sort by

Same author

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Clinical genetics·2026

Same author

Prognostic factors in the management of paediatric patients with retropharyngeal and parapharyngeal infections.

The Journal of laryngology and otology·2026

Same author

A Qualitative Study on the Role of Single-Entry Models in Managing Surgical Backlogs in Pediatric Otolaryngology Part 2: Investigating Perceptions of Patients and Their Caregivers.

Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale·2026

Same author

A Qualitative Study on the Role of Single-Entry Models in Managing Surgical Backlogs in Pediatric Otolaryngology Part 1: Investigating Perceptions of Referring Physicians and Otolaryngologists.

Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale·2026

Same author

Association of pulmonary lymphocytes with radiation-induced lung disease in a mouse model.

Radiation oncology (London, England)·2025

Same author

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

European journal of human genetics : EJHG·2025

Search research articles

Related Experiment Video

Updated: Jun 12, 2026

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Published on: July 3, 2020

Osteopenia in Cftr-deltaF508 mice.

Josée Paradis¹, Martina Wilke, Christina K Haston

¹Meakins-Christie Laboratories, Department of Medicine, McGill University, Canada.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society

|June 24, 2010

Summary

Cystic fibrosis mouse models with the DeltaF508 mutation exhibit osteopenic bone disease. Bone volume is reduced due to thinner or fewer trabeculae in these models.

Area of Science:

Bone biology
Genetics
Pathology

Background:

Cystic fibrosis transmembrane conductance regulator (Cftr) gene knockout mice develop osteopenia.
The DeltaF508 mutation is the most common cause of cystic fibrosis in humans.

Purpose of the Study:

To investigate osteopenia in cystic fibrosis mouse models with the DeltaF508 Cftr mutation.
To assess the bone phenotype in adult FVB/N Cftr(tm1Eur) and C57BL/6 Cftr(tm1Kth) mice.

Main Methods:

Histology, densitometry, and quantitative imaging were used to measure bone disease.
Femora of adult FVB/N Cftr(tm1Eur) and C57BL/6 Cftr(tm1Kth) mice were analyzed relative to littermate controls.

Main Results:

C57BL/6 Cftr(tm1Kth) mice had shorter femurs and lower bone volume due to thinner trabeculae.

More Related Videos

Nasal Potential Difference to Quantify Trans-epithelial Ion Transport in Mice

Nasal Potential Difference to Quantify Trans-epithelial Ion Transport in Mice

Published on: July 4, 2018

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients

Published on: February 11, 2017

Related Experiment Videos

Last Updated: Jun 12, 2026

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Published on: July 3, 2020

Nasal Potential Difference to Quantify Trans-epithelial Ion Transport in Mice

Nasal Potential Difference to Quantify Trans-epithelial Ion Transport in Mice

Published on: July 4, 2018

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients

Published on: February 11, 2017

FVB/N Cftr(tm1Eur) mice also showed lower bone volume, attributed to significantly fewer trabeculae.

Osteoblast and osteoclast numbers did not differ between cystic fibrosis and control mice.

Conclusions:

Adult DeltaF508-Cftr cystic fibrosis mouse models display osteopenic bone disease.
The study confirms a link between the DeltaF508 Cftr mutation and bone loss in mice.