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Mafb-lineage activation of a short polyalanine (+5) PHOX2B mutation produces severe respiratory dysfunction with preserved postnatal weight gain among survivors in a mouse model of congenital central hypoventilation syndrome

N. Ramanantsoa C. Riaud Amélia Madani Pauline Andres T. Bourgeois Jean-Luc Mandaba L. Cardoit J. Forgue Nathaly Romero Manon Perrain N. Antoun Eleonore Sizun M. Ringot J. Gallego B. Dudoignon P. Bokov Stéphane Dauger M. d'Ortho C. Delclaux M. Thoby-Brisson B. Matrot

Sep 2026 · bioRxiv · 0 citations · 18 references

Biology

TL;DR

A short PHOX2B polyalanine expansion reproduces major respiratory features of CCHS in mice and Activating the mutant allele in the MafB lineage is sufficient to cause severe respiratory dysfunction and neonatal mortality, whereas postnatal weight gain is preserved among survivors.

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