Badger Sophie E, Coldicott Ian, Kyrgiou-Balli Ergita, Higginbottom Adrian, Moutin Chloé, Mohd Imran Kamallia, Day John C, Cooper-Knock Johnathan, Mead Richard J, Alix James J P
Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield S10 1HQ, UK.
Interface Analysis Centre, School of Physics, University of Bristol, Bristol BS8 1TL, UK.
Dis Model Mech. 2025 Feb 1;18(2). doi: 10.1242/dmm.052221. Epub 2025 Feb 13.
C9orf72-related amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD) has proven difficult to model in mice. Liu et al. (2016) reported a bacterial artificial chromosome (BAC) transgenic mouse displaying behavioural, motor and pathological abnormalities. This was followed by multiple laboratories independently refuting and confirming phenotypes. A proposed explanation centred on the use of different FVB background lines (from The Jackson Laboratory and Janvier Labs). We studied C9orf72 BAC mice on both backgrounds and found significantly elevated levels of dipeptide repeat proteins, but no evidence of a transgene-associated phenotype. We observed seizures and a gradual decline in functional performance in transgenic and non-transgenic mice, irrespective of genetic background. The phenotype was in keeping with the so-called 'space cadet syndrome'. Our findings indicate that the differences previously reported are not due to C9orf72 status and highlight the importance of using genetic backgrounds that do not confound interpretation of neurodegenerative phenotypes.
事实证明,与C9orf72相关的肌萎缩侧索硬化症(ALS)/额颞叶痴呆(FTD)很难在小鼠中建模。刘等人(2016年)报告了一种细菌人工染色体(BAC)转基因小鼠,其表现出行为、运动和病理异常。随后多个实验室独立反驳并确认了这些表型。一种提出的解释集中在使用了不同的FVB背景品系(来自杰克逊实验室和扬维耶实验室)。我们研究了两种背景下的C9orf72 BAC小鼠,发现二肽重复蛋白水平显著升高,但没有转基因相关表型的证据。我们观察到转基因和非转基因小鼠都出现癫痫发作,并且功能表现逐渐下降,与遗传背景无关。这种表型与所谓的“太空学员综合征”相符。我们的研究结果表明,先前报道的差异并非由于C9orf72状态所致,并强调了使用不会混淆神经退行性表型解释的遗传背景的重要性。