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Related Experiment Video

Updated: Jul 3, 2026

Phenotyping Mouse Pulmonary Function In Vivo with the Lung Diffusing Capacity
07:13

Phenotyping Mouse Pulmonary Function In Vivo with the Lung Diffusing Capacity

Published on: January 6, 2015

Association studies of lung function in mice.

K Ganguly1, H Schulz

  • 1Helmholtz Zentrum München, German Research Center for Environmental Health Institute for Inhalation Biology.

DTW. Deutsche Tierarztliche Wochenschrift
|August 5, 2008
PubMed
Summary

Understanding the genetic basis of lung function is crucial for chronic obstructive pulmonary disease (COPD). This study identified genetic loci and candidate genes, including SOD3, contributing to lung function variations in mice.

Area of Science:

  • Genetics
  • Pulmonary Medicine
  • Physiology

Background:

  • Chronic obstructive pulmonary disease (COPD) is a leading cause of death, characterized by declining lung function.
  • Identifying genetic factors influencing lung function is essential for understanding COPD susceptibility.
  • Previous genome-wide linkage analysis identified Quantitative Trait Loci (QTLs) associated with lung function in mice.

Purpose of the Study:

  • To identify genetic loci and candidate genes contributing to variations in lung function.
  • To investigate the role of specific genes, such as SOD3, in regulating lung physiology.
  • To explore the translational potential of mouse genetic findings for human lung diseases.

Main Methods:

  • Genome-wide linkage analysis in inbred mice with divergent lung function.

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Last Updated: Jul 3, 2026

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  • Expression QTL (e-QTL) mapping and exon-wise sequencing of candidate genes.
  • Functional validation using gene-targeted Sod3 knockout mice.

    • Main Results:

    • Multiple QTLs for lung function traits (TLC, VD, C(L), D(co)) were identified on mouse chromosomes 5, 15, 17, and 19.
    • Four candidate genes were proposed: SOD3, TFF2, ENPP2, and RLN1, located on chromosomes linked to specific lung function parameters.
    • Sod3 knockout mice exhibited increased conducting airway volume, supporting SOD3's role in V(D)/TLC.

    Conclusions:

    • SOD3 is a contributing genetic factor for the complex trait of conducting airway volume.
    • The identified mouse QTLs and candidate genes provide insights into the genetic architecture of lung function.
    • Further investigation of human variations in these genes is warranted for translational applications in lung development and disease.