dc.contributor.author | Chu, Leona W.G. | |
dc.date.accessioned | 2016-08-31T17:00:11Z | |
dc.date.available | 2016-08-31T17:00:11Z | |
dc.date.issued | 2016-08-31T17:00:11Z | |
dc.identifier.uri | http://hdl.handle.net/10222/72163 | |
dc.description.abstract | The Scn8a gene encodes the voltage-gated sodium channel isoform Nav1.6, playing a key role in saltatory conduction across the nodes of Ranvier in the CNS. One Scn8a mutation, termed degenerating muscle (dmu) (Scn8admu/dmu) results in premature protein synthesis, causing reduced retinal function, hindlimb paralysis and premature death, suggesting possible disruptions to overall cellular integrity and functions. In my dissertation, I sought to understand how the Scn8admu mutation asserts its pathology. Disparity in gene expression patterns were identified between mutants and wildtype animals through qRT-PCR analysis of 11 genes. Results suggested a trend towards downregulation of genes involved with intracellular transport in mutants. Next, I examined the state of the intracellular scaffold within the neurons of mutant animals by staining for neurofilaments. The neurofilamentous network of mutant retina and cerebella are in a state of disarray. This disruption may be the root cause of observed phenotypes manifested by mutant animals. | en_US |
dc.language.iso | en | en_US |
dc.subject | Scn8a | en_US |
dc.subject | voltage-gated sodium channel | en_US |
dc.subject | axonal transport | en_US |
dc.subject | neurofilament | en_US |
dc.subject | neurofilament accumulation | en_US |
dc.subject | retina | en_US |
dc.subject | degenerating muscle (dmu) | en_US |
dc.subject | spontaneous Na(v)1.6 rescue (snr) | en_US |
dc.subject | qRT-PCR | en_US |
dc.subject | Immunohistochemistry | en_US |
dc.subject | cerebellum | en_US |
dc.subject | visual cortex | en_US |
dc.title | Role of Na(v)1.6 and Visual Experience in Retinal and Brain Maturation during the Early Postnatal Period | en_US |
dc.type | Thesis | en_US |
dc.date.defence | 2016-08-25 | |
dc.contributor.department | Department of Biology | en_US |
dc.contributor.degree | Master of Science | en_US |
dc.contributor.external-examiner | N/A | en_US |
dc.contributor.graduate-coordinator | Dr. Sophia Stone | en_US |
dc.contributor.thesis-reader | Dr. TamaraFranz-Odendaal | en_US |
dc.contributor.thesis-reader | Dr. Steven Barnes | en_US |
dc.contributor.thesis-reader | Dr. Paul Bentzen | en_US |
dc.contributor.thesis-supervisor | Dr. Sara Iverson | en_US |
dc.contributor.thesis-supervisor | Dr. Patrice Cote | en_US |
dc.contributor.ethics-approval | Received | en_US |
dc.contributor.manuscripts | Not Applicable | en_US |
dc.contributor.copyright-release | Not Applicable | en_US |