mortality/aging
• 80% survive to P20, indicating a 20% lethality before P20
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Allele Symbol Allele Name Allele ID |
Nrxn3tm1Sud targeted mutation 1, Thomas C Sudhof MGI:3042720 |
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Summary |
3 genotypes
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• 80% survive to P20, indicating a 20% lethality before P20
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• all mice die within a day of birth putatively due to dysfunction of essential neural networks involved in breathing
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• mutants have difficulty breathing with a highly irregular respiratory rhythm and reduced ventilation activity due to a dysfunctional output of rhythm generating network in the brainstem
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• density of symmetric (presumptive inhibitory) synapses are reduced in the brainstem but density of asymmetric (presumptive excitatory) are not
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• post-synaptic defects involving impaired NMDA receptor function
(J:88641)
• decrease in spontaneous miniature postsynaptic current frequency, decrease in evoked response, increase in failure rates, and lack of noticeable changes in postsynaptic receptor activity shows a primary pre-synaptic defect involving impaired neurotransmitter release
(J:89452)
• impaired evoked synaptic transmission in neocortex
(J:89452)
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• large decrease in the frequency of GABA(A)-receptor mediated spontaneous miniature postsynaptic currents in the neocortex and the brainstem
• density of GABA-releasing terminals is reduced by about 2-fold, whereas the density of glutamatergic terminals is unchanged
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• impaired evoked synaptic transmission in brainstem; even at high stimulation strengths, the amplitudes of excitatory postsynaptic currents are smaller than in controls
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• large decrease in the frequency of AMPA-receptor mediated spontaneous miniature postsynaptic currents in the neocortex and the brainstem
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• the NMDA-receptor-dependent component of spontaneous synaptic miniature responses is reduced about 50%, while the AMPA-receptor-dependent component is unaffected
• selective decrease in NMDA-receptor-mediated currents affecting evoked synaptic responses
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• aggravation of short-term synaptic depression within individual stimulus trains and increased synaptic depression during multiple stimulus trains
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• spontaneous and evoked neurotransmitter release is impaired as measured in excitatory and inhibitory synapses in the brainstem and neocortex, partly due to a decrease in presynaptic calcium currents, especially N-type calcium currents
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• within a stimulus train, paired-pulse depression is normal in response to the second stimulus but responses to the 3rd and 4th stimulus are lower in synapses
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• about 40% survive to P30
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• about 60% survive to P10
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• impaired evoked synaptic transmission in brainstem
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• respiration is abnormal with an irregular rhythm
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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 12/10/2024 MGI 6.24 |
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