Allele Symbol Allele Name Allele ID |
Syngap1tm1Rlh targeted mutation 1, Richard L Huganir MGI:3576223 |
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Summary |
5 genotypes
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• pups die between P5 and P7
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• between P4 and P6, pups stay small in size
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• by P3, pups do not feed from the mother
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• by P3, homozygous mutants show less movement
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• homozygotes had significantly fewer morphological silent synapses (synapses that contain NMDA receptors but not AMPA receptors) and had a greater number of AMPA receptor clusters in cortical neuronal cultures
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• mutants exhibit reduced freezing in response to a conditioning tone previously associated with a mild footshock, however the freezing response is intact as behavioral responses to a fear-associated context are normal
• activity during conditioning tone presentation is normal, however activity is elevated during tone presentation in the retrieval test
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• although mutants are able to learn forced alteration rule in the automated eight-arm radial maze, mutants show a time-dependent decrease in nonmatching performance, indicating spatial working memory deficits
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• mutants exhibit random vectors through the open field unlike wild-type mice that primarily run around the outside chamber and spend most of the time in the corners, indicating abnormal anxiety levels
• mutants are more likely to venture into the center of the field during the first few minutes of the test session, indicating decreased thigmotaxis
• in the elevated plus maze, mutants spend less time in the closed arm and more time in the open arm compared to wild-type mice, indicating decreased anxiety levels
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• mutants respond more strongly to the 120 dB stimulus then wild-type mice
• mutants show enhanced startle responses at the highest amplitudes (loudest pulses)
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• mutants exhibit elevated horizontal activity compared to wild-type littermates and this behavior is nonhabituating over repeated trials
• juvenile, newly weaned mutants also exhibit increased horizontal activity
• antipsychotic drug clozapine ameliorates the persistent hyperactivity
• the NMDAR antagonist, MK-801, has a reduced effect on hyperactivity in mutants compared to wild-type mice
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• mutants show an increase in stereotypies in the open field test compared to wild-type littermates, most pronounced at the beginning of a 2 hour test session
• mutants show increased stereotypic behavior in 30 minute open field trials over 5 consecutive days, indicating behavior is nonhabituating
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• mutants are unable to distinguish between familiar and novel conspecifics compared to wild-type mice which spend more time with the novel conspecifics
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• in a test for social isolation, mutants spend more time in the center compartment (a space that is separated from the other mice) than in ends of chamber where novel conspecifics were placed, indicating a preference for social isolation
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
schizophrenia | DOID:5419 |
OMIM:181500 |
J:194146 |
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• at P14, mice exhibit normal medial perforant path release probability and intrinsic spiking of dentate gyrus neurons
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• fluorothyl-induced
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• at P14, dentate gyrus neuron dendritic trees exhibit a decrease in the spatial volume compared with in wild-type mice
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• larger spines by P14 and persisting into adulthood
• more mushroom-type spines and fewer stubby spines beginning in the second postnatal week
• spines are less motile at P14
• some spines exhibit a spontaneous increase in head volume
• however, spine density is normal
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• photosimulation-evoked signals originating in the dentate gyrus are amplified as they spread through the hippocampus unlike in wild-type mice
• synaptic transmission in the Schaeffer Collateral pathway in the CA1 is strong during early development compared with wild-type mice
• however, synaptic transmission in the Schaeffer Collateral pathway in the CA1 in adult mice is normal
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• by P14, field excitatory postsynaptic potential is increased compared to in control mice
• however, synaptic function at P9, P21 and later is normal
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• at P14, mice exhibit an increase in the ratio of AMPA/NMDA currents in dentate gyrus granule neurons compared with wild-type mice
• however, NMDAR-evoked synaptic transmission is normal
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• increased sensitivity at P14
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• increased amplitude and frequency at P14
• however, both are normal at P21
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• increased frequency and amplitude in the dentate gyrus neurons
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• in the dentate gyrus neurons
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• in the dentate gyrus neurons
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N |
• mice exhibit normal contextual fear memory
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• fluorothyl-induced
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• mice are unable to discriminate between two contexts during contextual fear training unlike wild-type mice
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• in an open field at P14
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• long term potentiation induced by TBS was significantly decreased in the CA1 region of hippocampal slices, however there was no difference in the magnitude of long term depression
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 11/12/2024 MGI 6.24 |
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