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Updated: Apr 12, 2026

Localization of the Locus Coeruleus in the Mouse Brain
Published on: March 7, 2019
Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome
Hiroko Nobuta1, Maria Roberta Cilio, Olivier Danhaive
1Department of Pediatrics, University of California San Francisco, 35 Medical Center Way, San Francisco, CA, 94143, USA.
Abstract:
Human congenital central hypoventilation syndrome (CCHS), resulting from mutations in transcription factor PHOX2B, manifests with impaired responses to hypoxemia and hypercapnia especially during sleep. To identify brainstem structures developmentally affected in CCHS, we analyzed two postmortem neonatal-lethal cases with confirmed polyalanine repeat expansion (PARM) or Non-PARM (PHOX2B∆8) mutation of PHOX2B. Both human cases showed neuronal losses within the locus coeruleus (LC), which is important for central noradrenergic signaling. Using a conditionally active transgenic mouse model of the PHOX2B∆8 mutation, we found that early embryonic expression (
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