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Disorganization in the Central Circadian Clock in a Mouse Model of BLOC-1 Deficiency


Mutations impacting the Biogenesis of Lysosome-related Organelles Complex-1 (BLOC- 1) represent potential genetic risk factors for intellectual and developmental disabilities (IDD). Sleep/wake disruption is a common symptom among IDD individuals although the underlying mechanisms are not known. To understand this relationship, this thesis explored the impact of the loss of BLOC-1 on the central circadian clock in the suprachiasmatic nucleus (SCN) using the Pallid mouse model. To determine whether the anatomical organization of the SCN was affected, we first examined gross morphology using Nissl staining. We then examined the protein expression of two key signaling molecules, arginine vasopressin and vasoactive intestinal polypeptide, within the SCN circuit. Finally, we examined a marker for the circadian gene regulatory network by measuring the expression of Period2 during the day and night. Overall, our findings support the conclusion that BLOC-1 has a role in the central nervous system with specific consequences for circadian physiology.

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