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Updated: Jun 12, 2026

In vivo Evaluation of Mucociliary Clearance in Mice
06:35

In vivo Evaluation of Mucociliary Clearance in Mice

Published on: December 18, 2020

ARMC2 loss impairs cilia structure and leads to primary ciliary dyskinesia symptoms in mouse organs

Elsa Giordani1, Solène Houdeline1, Magali Court1

  • 1Institute for Advanced Biosciences, University Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Team Genetics Epigenetics and Therapies of Infertility, Grenoble, France.

Frontiers in Cell and Developmental Biology
|June 11, 2026
PubMed

Insights

ARMC2 deficiency causes sperm flagella defects and male infertility. In mice, it also impairs cilia function, suggesting ARMC2 mutations may cause primary ciliary dyskinesia (PCD) in humans.

Area of Science:

  • Cell Biology
  • Genetics
  • Reproductive Medicine

Background:

  • ARMC2 deficiency in humans causes Multiple Morphological Abnormalities of the Flagellum (MMAF), leading to male infertility.
  • MMAF presents with abnormal sperm flagella but lacks typical primary ciliary dyskinesia (PCD) symptoms.

Purpose of the Study:

  • To investigate the role of ARMC2 in cilia function, given the structural similarities between cilia and flagella.
  • To explore if ARMC2 mutations are a potential cause of human PCD.

Main Methods:

  • Analysis of cilia length and function in Armc2-deficient mice.
  • Assessment of reproductive outcomes in female Armc2-deficient mice.
  • Observation of PCD-related phenotypes in Armc2-deficient mice.

Main Results:

  • Armc2 deficiency reduced cilia length in mouse trachea and oviducts.
  • Impaired ciliary beating led to tracheal mucus accumulation and reduced fertility in female mice.
  • Mice exhibited PCD-like symptoms including enlarged brain ventricles, hydrocephalus, and situs ambiguus.

Conclusions:

  • ARMC2 plays a crucial role in both flagella and cilia function.
  • ARMC2 mutations are a potential molecular cause of human primary ciliary dyskinesia (PCD).
  • This study expands the known functions of ARMC2 beyond male fertility.
Keywords:
ARMC2MMAFPCDciliasperm flagella

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