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
Rationale: Congenital central hypoventilation syndrome (CCHS) is most commonly caused by polyalanine repeat mutations in PHOX2B. The in vivo consequences of the short five-alanine expansion and the contribution of specific hindbrain lineages to the resulting respiratory phenotype remain poorly understood. Objectives: To characterize the neonatal phenotype caused by the Phox2b25Ala/+ mutation and…
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