NeurosciencebioRxivPreprint
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…·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.
DOI 10.64898/2026.09.12.750943