ArticlePloS one2013
A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 39 citations in OpenAlex.
- Development of cognitive, motor, metabolic, and mutant huntingtin aggregation in the zQ175 mouse model of Huntington's disease.Scientific reports · 2025Article
- Analysis of LINE1 Retrotransposons in Huntington's Disease.Frontiers in cellular neuroscience · 2021Article
- Motility Profile of Captive-Bred Marmosets Revealed by a Long-Term In-Cage Monitoring System.Frontiers in systems neuroscience · 2021Article
- Huntingtin Aggregates in the Olfactory Bulb in Huntington's Disease.Frontiers in aging neuroscience · 2020Article
- Fgf9Molecular neurobiology · 2018Article
- Progress in developing transgenic monkey model for Huntington's disease.Journal of neural transmission (Vienna, Austria : 1996) · 2018Review
- HttQ111/+ Huntington's Disease Knock-in Mice Exhibit Brain Region-Specific Morphological Changes and Synaptic Dysfunction.Journal of Huntington's disease · 2018Article
- Serum Response Factor (SRF) Ablation Interferes with Acute Stress-Associated Immediate and Long-Term Coping Mechanisms.Molecular neurobiology · 2017Article
- Article
- Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss.Acta neuropathologica · 2017Article
- A selective inhibitor of histone deacetylase 3 prevents cognitive deficits and suppresses striatal CAG repeat expansions in Huntington's disease mice.Scientific reports · 2017Article
- High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds.Human molecular genetics · 2017Article
- Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.HttScientific reports · 2017Article
- Peripheral huntingtin silencing does not ameliorate central signs of disease in the B6.HttQ111/+ mouse model of Huntington's disease.PloS one · 2017Article
- Article
- A Longitudinal Motor Characterisation of the HdhQ111 Mouse Model of Huntington's Disease.Journal of Huntington's disease · 2016Article
- Article
- Effects of Pin1 Loss in Hdh(Q111) Knock-in Mice.Frontiers in cellular neuroscience · 2016Article
- Chromosome substitution strain assessment of a Huntington's disease modifier locus.Mammalian genome : official journal of the International Mammalian Genome Society · 2015Article
- Conditional Reduction of Adult Born Doublecortin-Positive Neurons Reversibly Impairs Selective Behaviors.Frontiers in behavioral neuroscience · 2015Article
Corrections and comments
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Authors and funding
28 authors at 8 institutions in 3 countries.
Funding
Abstract
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of a CAG trinucleotide repeat in the HTT gene encoding huntingtin. The disease has an insidious course, typically progressing over 10-15 years until death. Currently there is no effective disease-modifying therapy. To better understand the HD pathogenic process we have developed genetic HTT CAG knock-in mouse models that accurately recapitulate the HD mutation in man. Here, we describe results of a broad, standardized phenotypic screen in 10-46 week old heterozygous HdhQ111 knock-in mice, probing a wide range of physiological systems. The results of this screen revealed a number of behavioral abnormalities in HdhQ111/+ mice that include hypoactivity, decreased anxiety, motor learning and coordination deficits, and impaired olfactory discrimination. The screen also provided evidence supporting subtle cardiovascular, lung, and plasma metabolite alterations. Importantly, our results reveal that a single mutant HTT allele in the mouse is sufficient to elicit multiple phenotypic abnormalities, consistent with a dominant disease process in patients. These data provide a starting point for further investigation of several organ systems in HD, for the dissection of underlying pathogenic mechanisms and for the identification of reliable phenotypic endpoints for therapeutic testing.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.