ArticleJournal of neurodevelopmental disorders2009
Modeling rare gene variation to gain insight into the oldest biomarker in autism: construction of the serotonin transporter Gly56Ala knock-in mouse.
Article in Journal of neurodevelopmental disorders, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 44 citations in OpenAlex.
- Unraveling the enigma of mental disorders: a genetics-first approach and the role of mouse models based on rare disease-susceptible genome variants.Nagoya journal of medical science · 2025Review
- Autism spectrum disorders and the gastrointestinal tract: insights into mechanisms and clinical relevance.Nature reviews. Gastroenterology & hepatology · 2024Review
- Serotonergic Control of Gastrointestinal Development, Motility, and Inflammation.Comprehensive Physiology · 2023Article
- Serotonin Transporter Ala276 Mouse: Novel Model to Assess the Neurochemical and Behavioral Impact of Thr276 Phosphorylation In Vivo.Neurochemical research · 2022Review
- Serotonin 5-HTPsychopharmacology · 2021Article
- Rare Opportunities for Insights Into Serotonergic Contributions to Brain and Bowel Disorders: Studies of the SERT Ala56 Mouse.Frontiers in cellular neuroscience · 2021Article
- Article
- Human Serotonin Transporter Coding Variation Establishes Conformational Bias with Functional Consequences.ACS chemical neuroscience · 2019Article
- Extreme enhancement or depletion of serotonin transporter function and serotonin availability in autism spectrum disorder.Pharmacological research · 2019Review
- p38α MAPK signaling drives pharmacologically reversible brain and gastrointestinal phenotypes in the SERT Ala56 mouse.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Analysis of neuroanatomical differences in mice with genetically modified serotonin transporters assessed by structural magnetic resonance imaging.Molecular autism · 2018Article
- Mouse strain differences in SSRI sensitivity correlate with serotonin transporter binding and function.Scientific reports · 2017Article
- An autism-associated serotonin transporter variant disrupts multisensory processing.Translational psychiatry · 2017Article
- Serotonergic Mechanisms Regulating the GI Tract: Experimental Evidence and Therapeutic Relevance.Handbook of experimental pharmacology · 2017Review
- Impact of Maternal Serotonin Transporter Genotype on Placental Serotonin, Fetal Forebrain Serotonin, and Neurodevelopment.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2017Article
- Serotonin transporter variant drives preventable gastrointestinal abnormalities in development and function.The Journal of clinical investigation · 2016Article
- Clinical and Neurobiological Relevance of Current Animal Models of Autism Spectrum Disorders.Biomolecules & therapeutics · 2016Review
- Gut-Microbiota-Brain Axis and Its Effect on Neuropsychiatric Disorders With Suspected Immune Dysregulation.Clinical therapeutics · 2015Review
- Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene.Molecular autism · 2014Article
- A review of the serotonin transporter and prenatal cortisol in the development of autism spectrum disorders.Molecular autism · 2013Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Alterations in peripheral and central indices of serotonin (5-hydroxytryptamine, 5-HT) production, storage and signaling have long been associated with autism. The 5-HT transporter gene (HTT, SERT, SLC6A4) has received considerable attention as a potential risk locus for autism-spectrum disorders, as well as disorders with overlapping symptoms, including obsessive-compulsive disorder (OCD). Here, we review our efforts to characterize rare, nonsynonymous polymorphisms in SERT derived from multiplex pedigrees carrying diagnoses of autism and OCD and present the initial stages of our effort to model one of these variants, Gly56Ala, in vivo. We generated a targeting vector to produce the Gly56Ala substitution in the Slc6a4 locus by homologous recombination. Following removal of a neomycin resistance selection cassette, animals exhibiting germline transmission of the Ala56 variant were bred to establish a breeding colony on a 129S6 background, suitable for initial evaluation of biochemical, physiological and behavioral alterations relative to SERT Gly56 (wild-type) animals. SERT Ala56 mice were achieved and exhibit a normal pattern of transmission. The initial growth and gross morphology of these animals is comparable to wildtype littermate controls. The SERT Ala56 variant can be propagated in 129S6 mice without apparent disruption of fertility and growth. We discuss both the opportunities and challenges that await the physiological/behavioral analysis of Gly56Ala transgenic mice, with particular reference to modeling autism-associated traits.
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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.