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
Nélina Ramanantsoa, Charline Riaud, Amélia Madani, Pauline Andres, Thomas Bourgeois, Jean-Luc Mandaba, Laura Cardoit, Jean Forgue, Nathaly Romero, Manon Perrain, Nevine Antoun, Éléonore Sizun, Maud Ringot, Jorge Gallego, Benjamin Dudoignon, , Boris Matrot
This study shows that a short PHOX2B polyalanine expansion causes severe respiratory issues in mice, but survivors maintain normal weight gain when the mutation is restricted to the MafB lineage.
bioRxiv · Sep 17, 2026 · PreprintNeuroscience