Filali Mohammed, Lalonde Robert
Functional Analysis of Animal Behavior Platform, CHUQ Research Center and Department of Molecular Medicine, Laval University, 2705 Blvd Laurier, Québec, QC, G1V 4G2, Canada.
Faculty of Sciences, University of Rouen, Mont-Saint-Aignan, France.
Behav Genet. 2016 Mar;46(2):228-41. doi: 10.1007/s10519-015-9753-3. Epub 2015 Oct 19.
Pitx3/ak null mutants are characterized by basal ganglia pathology in a manner resembling Parkinson's disease (PD), with decline in substantia nigra cell numbers as well as striatal tyrosine hydroxylase expression. Although young adult Pitx3/ak mutants were deficient in motor coordination tests, they were more active than non-transgenic controls in the open-field, unlike PD-related bradykinesia. On the SHIRPA primary screen, the mutants displayed body tremor, hyperactivity in the viewing jar, anomalies in eye morphology as well as a higher degree of hindlimb clasping and myoclonic jumping. Increased hindlimb clasping time and rotorod deficits seen in mutants were also exhibited by mice injected with MPTP, indicating an influence of dopamine on these behaviors.
Pitx3/ak基因敲除突变体的特征是基底神经节病变，其方式类似于帕金森病（PD），黑质细胞数量减少以及纹状体酪氨酸羟化酶表达下降。尽管年轻成年Pitx3/ak突变体在运动协调测试中存在缺陷，但与PD相关的运动迟缓不同，它们在旷场实验中比非转基因对照更活跃。在SHIRPA初步筛选中，突变体表现出身体震颤、在观察罐中多动、眼睛形态异常以及更高程度的后肢紧握和肌阵挛性跳跃。注射MPTP的小鼠也表现出突变体中观察到的后肢紧握时间增加和转棒试验缺陷，表明多巴胺对这些行为有影响。
