Syngap1 Haploinsufficiency Damages a Postnatal Critical Period of Pyramidal Cell Structural Maturation Linked to Cortical Circuit Assembly
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Background Genetic haploinsufficiency of SYNGAP1/Syngap1 commonly occurs in developmental brain disorders, such as intellectual disability, epilepsy, schizophrenia, and autism spectrum disorder. Thus, studying mouse models of Syngap1 haploinsufficiency may uncover pathologic developmental processes common among distinct brain disorders.Methods A Syngap1 haploinsufficiency model was used to explore the relationship between critical period dendritic spine abnormalities, cortical circuit assembly, and the window for genetic rescue to understand how damaging mutations disrupt key substrates of mouse brain development.Results Syngap1 mutations broadly disrupted a developmentally sensitive period that corresponded to the period of heightened postnatal cortical synaptogenesis. Pathogenic Syngap1 mutations caused a coordinated acceleration of dendrite elongation and spine morphogenesis and pruning of these structures in neonatal cortical pyramidal neurons. These mutations also prevented a form of developmental structural plasticity associated with experience-dependent reorganization of brain circuits. Consistent with these findings, Syngap1 mutant mice displayed an altered pattern of long-distance synaptic inputs into a cortical area important for cognition. Interestingly, the ability to genetically improve the behavioral endophenotype of Syngap1 mice decreased slowly over postnatal development and mapped onto the developmental period of coordinated dendritic insults.Conclusions Pathogenic Syngap1 mutations have a profound impact on the dynamics and structural integrity of pyramidal cell postsynaptic structures known to guide the de novo wiring of nascent cortical circuits. These findings support the idea that disrupted critical periods of dendritic growth and spine plasticity may be a common pathologic process in developmental brain disorders.
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At P21, dendritic spine head size was significantly smaller in Srgap2 heterozygous CPNs and significantly larger in Syngap1 heterozygous CPNs compared with wild-type layer 2/3 CPNs.
“As reported previously,24,29,39 morphological analyses at P21 revealed that dendritic spine head size was significantly smaller in Srgap2 heterozygous CPNs and significantly larger in Syngap1 heterozygous CPNs compared with wild-type layer 2/3 CPNs (Figures 6B–6D and S10D).”
From Synaptic neoteny of human cortical neurons requires species-specific balancing of SRGAP2-SYNGAP1 cross-inhibition (2024) · cites this paper as [39]
The Results (page not provided) report altered spine size in Syngap1 heterozygous layer 2/3 neurons at PND14 and enlarged spines in adult layer 2/3 neurons. They also report larger newly formed spines at PND21–23, but those were in layer 5 neurons. The cited paper therefore supports the direction of the Syngap1 finding, not the specific P21 layer 2/3 spine-head comparison; the Srgap2 finding is not attributed to this source alone. (LLM, conf=0.83)
Experimental — accuracy not yet measuredPrevious work has pointed to increased synapse formation in Syngap1+/− juvenile mutant mice, suggestive of accelerated synaptic development.
“Previous work has pointed to increased synapse formation in Syngap1+/− juvenile mutant mice, suggestive of accelerated synaptic development.39”
From Synaptic neoteny of human cortical neurons requires species-specific balancing of SRGAP2-SYNGAP1 cross-inhibition (2024) · cites this paper as [39]
At P21, dendritic spine head size was smaller and dendritic spine density higher in SRGAP2C gain-of-function CPNs.
“As reported previously,24,29,39 analysis at P21 revealed that dendritic spine head size was smaller and dendritic spine density higher in SRGAP2C gain-of-function CPNs24,29 (Figures 6B–6D and S10B–S10D).”
From Synaptic neoteny of human cortical neurons requires species-specific balancing of SRGAP2-SYNGAP1 cross-inhibition (2024) · cites this paper as [39]
The Results passages describe Syngap1-haploinsufficient mice, not SRGAP2C gain-of-function cortical projection neurons. They report enlarged newly formed spines at PND21–23 and altered spine density during development, but do not address the claimed P21 combination of smaller spine heads and higher density in SRGAP2C gain-of-function cells (searched: SRGAP2C gain-of-function, PND21 spine size and density). (LLM, conf=0.76)
Experimental — accuracy not yet measuredIn mice mimicking the Syngap1 deficit, layer V pyramidal neurons of the somatosensory cortex show precocious dendritic arborization, early spine formation and premature pruning, and enlarged spines during a critical developmental period compared with wild-type mice.
“Studies using genetically modified mice that mimic the Syngap1 deficit have revealed precocious dendritic arborization, early formation and premature pruning of dendritic spines as well as enlarged dendritic spines in layer V pyramidal neurons of the somatosensory cortex during a critical period of development, compared to WT mice [2].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [2]
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Gene-level analysis reveals the genetic aetiology and therapeutic targets of schizophrenia
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Endogenous Syngap1 alpha splice forms promote cognitive function and seizure protection
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Self-citationSYNGAP1 deficiency disrupts synaptic neoteny in xenotransplanted human cortical neurons in vivo
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Antibody profiling identifies novel antigenic targets in spinal cord injury patients
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Early and Late Corrections in Mouse Models of Autism Spectrum Disorder
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Catastrophic Epilepsies of Childhood
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Mouse models of SYNGAP1 -related intellectual disability
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Anchoring high concentrations of SynGAP at postsynaptic densities via liquid-liquid phase separation
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Fluorescence imaging of synapse dynamics in normal circuit maturation and in developmental disorders
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Self-citationPrioritizing the development of mouse models for childhood brain disorders
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Self-citationAge, brain region, and gene dosage-differential transcriptomic changes in Shank3-mutant mice
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Trio and Kalirin as unique enactors of Rho/Rac spatiotemporal precision
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Abnormal brain state distribution and network connectivity in a SYNGAP1 rat model
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Synaptic and circuit development of the primary sensory cortex
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Experiential modulation of social dominance in a SYNGAP1 rat model of Autism Spectrum Disorders
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Protein synthesis as a modifiable target for autism‐related dendritic spine pathophysiologies
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Khlaifia, A., Jadhav, V., Danik, M., Badra, T., Berryer, M. H., Dionne‐Laporte, A., Chattopadhyaya, B., Cristo, G. D., Lacaille, J., & Michaud, J. L. (2023) · eNeuro · doi:10.1523/eneuro.0475-22.2023 · Cited by 13 · see citing works
Understanding the role of AMPA receptors in autism: insights from circuit and synapse dysfunction
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Self-citationSyngap1 promotes cognitive function through regulation of cortical sensorimotor dynamics
Vaissière, T., Michaelson, S. D., Creson, T. K., Goins, J., Fürth, D., Balázsfi, D., Rojas, C., Golovin, R. M., Meletis, K., Miller, C. A., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-56125-0 · Cited by 12 · see citing works
Self-citationEpigenetic modulation rescues neurodevelopmental deficits in Syngap1+/− mice
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Animal models of autism: a perspective from autophagy mechanisms
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Human synaptic neoteny requires species-specific balancing of SRGAP2-SYNGAP1 cross-inhibitionPreprint
Libé‐Philippot, B., Iwata, R., Recupero, A. J., Wierda, K. D. B., Ditkowska, M., Gaspariunaite, V., Vermaercke, B., Pezé-Heidsieck, E., Remans, D., Charrier, C., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.03.01.530630 · Cited by 12 · see citing works
Interactions between Ras and Rap signaling pathways during neurodevelopment in health and disease
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Rigter, P. M. F., Wallaard, I., Jolfaei, M. A., Kingma, J., Post, L. C., Elgersma, M., Elgersma, Y., & van Woerden, G. M. (2022) · iScience · doi:10.1016/j.isci.2022.105303 · Cited by 10 · see citing works
Wang, Y., Lv, Y., Li, Z., Gao, M., Yang, X., Li, Y., Shi, J., Gao, Z., Liu, Y., & Gai, Z. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.957915 · Cited by 9 · see citing works
Self-citationJadhav, V., Carreño-Muñoz, M. I., Chehrazi, P., Michaud, J. L., Chattopadhyaya, B., & Cristo, G. D. (2024) · Journal of Neuroscience · doi:10.1523/jneurosci.0946-24.2024 · Cited by 8 · see citing works
Yang, X. Y., Stanley, R., Ross, A. P., Robitaille, A. M., Gray, J. A., & Cheyette, B. N. R. (2017) · Cerebral Cortex · doi:10.1093/cercor/bhx333 · Cited by 9 · see citing works
Syngap1 Regulates Cortical Circuit Assembly by Controlling Membrane ExcitabilityPreprint
Arora, V., Michaelson, S. D., Aceti, M., Kilinic, M., Miller, C. A., & Rumbaugh, G. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.12.06.519295 · Cited by 8 · see citing works
Self-citationActivity-Dependent Stabilization of Nascent Dendritic Spines Requires Nonenzymatic CaMKIIα Function
Claiborne, N., Anisimova, M., & Zito, K. (2023) · Journal of Neuroscience · doi:10.1523/jneurosci.1393-22.2023 · Cited by 8 · see citing works
Noh, Y. W., Yook, C., Kang, J., Lee, S., Kim, Y., Yang, E., Kim, H., & Kim, E. (2022) · Communications Biology · doi:10.1038/s42003-022-03813-y · Cited by 8 · see citing works
The autism-associated gene SYNGAP1 regulates human cortical neurogenesisPreprint
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Harrison, A., Magielski, J. H., McSalley, I., Ganesan, S., Prentice, A. J., Cunningham, K. G., Pierce, S. R., Boland, M. J., Prosser, B. L., Helbig, I., et al. (2025) · Epilepsia · doi:10.1111/epi.18469 · Cited by 5 · see citing works
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Deciphering the role of CAPZA2 in neurodevelopmental disorders: insights from mouse models
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Hafenbreidel, M., Pandey, S., Briggs, S., Arza, M., Bonthu, S., Fisher, C., Tiller, A., Hall, A. B., Reed, S., Mayorga, N., et al. (2023) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2023.107865 · Cited by 5 · see citing works
Self-citationBehavioural and neurodevelopmental characteristics of SYNGAP1
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Hyperexcitability and translational phenotypes in a preclinical model of SYNGAP1 mutationsPreprint
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Levman, J. E. D. (2025) · Biology · doi:10.3390/biology14121651 · Cited by 3 · see citing works
Francavilla, R., Chattopadhyaya, B., Kamda, J. L. D., Jadhav, V., Kourrich, S., Michaud, J. L., & Cristo, G. D. (2024) · eLife · doi:10.7554/elife.97100.4 · Cited by 5 · see citing works
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Self-citationSYNGAP1 deficiency disrupts neoteny in human cortical neurons in vivoPreprint
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Genetic and Pharmacological Reversibility of Phenotypes in Mouse Models of Autism Spectrum Disorder
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Critical periods and neurodevelopmental brain disorders
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Dual diagnosis causing severe phenotype in a patient with Angelman syndrome
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Preclinical models for autism spectrum disorder: past, present, and future
Dwivedi, S., Rajput, P., Akhtar, A., Goli, S. H., & Dusane, A. (2025) · Neuroscience · doi:10.1016/j.neuroscience.2025.10.063 · Cited by 1 · see citing works
- Authors
- Aceti, M., Creson, T. K., Vaissiere, T., Rojas, C., Huang, W.-C., Wang, Y.-X., Petralia, R. S., Page, D. T., Miller, C. A., & Rumbaugh, G.
- Affiliations
- Scripps Research Institute (US)
- National Institutes of Health (US)
- ORCID
- Venue
- Biological Psychiatry
- Publisher
- Elsevier BV
- Published
- 2015-05
- Volume
- 77
- Issue
- 9
- Pages
- 805-815
- ISSN
- 0006-3223 (ISSN-L)
- PMC
- PMC4326604
- OpenAlex
- W2007942788
- Cited by
- 129
- References
- 44
- Citations by year
- 2026: 11 · 2025: 12 · 2024: 13 · 2023: 14 · 2022: 14 · 2021: 14 · 2020: 12 · 2019: 11 · 2018: 10 · 2017: 11 · 2016: 6 · 2015: 1
- FWCI
- 3.93
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Biological Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- The National Institute for Neurological Disorders and Stroke (R01NS064079)
- The National Institute for Mental Health (R01MH096847)
- National Institute for Drug Abuse (R01 DA034116, R03 DA033499)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- SYNGAP1, haploinsufficiency, dendritic spine maturation, cortical pyramidal neurons, synaptogenesis, dendrite elongation, synaptic pruning, experience-dependent plasticity, intellectual disability, epilepsy, autism spectrum disorder, schizophrenia, genetic rescue, mouse model
- MeSH terms
- Animals, Animals, Newborn, Cerebral Cortex, Conditioning, Psychological, Exploratory Behavior, Fear, Hippocampus, Mice, Transgenic, Neural Pathways, Sensory Deprivation, Vibrissae, Pyramidal Cells, Maze Learning, ras GTPase-Activating Proteins, Dendritic Spines, Haploinsufficiency, Endophenotypes
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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