Targeted Disruption of Tsc2 Gene in the Mouse Cerebellum
Principal Investigator:
GAMBELLO, MICHAEL
Institution Receiving Award:
TEXAS, UNIVERSITY OF, HEALTH SCIENCE CENTER AT HOUSTON
Program:
TSCRP
Proposal Number:
TS060030
Award Number:
W81XWH-07-1-0275
Funding Mechanism:
Concept Award
Partnering Awards:
Award Amount:
$95,259.58
PUBLIC ABSTRACT
Tuberous sclerosis complex (TSC) is a genetic disease that is caused by changes in either the TSC1 or TSC2 gene. Up to 95% of patients with TSC are affected by brain abnormalities. Most research has focused on the cerebral cortex, but patients can also have abnormalities in another part of the brain called the cerebellum. The cerebellum is important for motor learning and may also malfunction in some patients with autism. The main goal of this research program is to create and study mouse models of the abnormalities seen in the cerebella of patients with TSC. Using these mice, we will be able to remove the Tsc2 gene from the principle output cell of the cerebellum called the Purkinje cell. We will create two sets of mice; one that models patients with TSC and cerebellar problems and another that only has affected Purkinje cells. We will analyze and compare the cellular structure of the cerebella of these mice. We will also do behavioral testing on these animals. These models will allow us to understand the importance of the cerebellum in TSC and normal brain function and may also shed light on the relationship between TSC and autism spectrum disorders. |
