All Phenotypes Nrxn3<tm1Sud> MGI Mouse

neonatal lethality, complete penetrance ( J:89452 )

• all mice die within a day of birth putatively due to dysfunction of essential neural networks involved in breathing

• 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

decreased CNS synapse formation ( J:89452 )

• density of symmetric (presumptive inhibitory) synapses are reduced in the brainstem but density of asymmetric (presumptive excitatory) are not

abnormal CNS synaptic transmission ( J:88641 , J:89452 )

• 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)

abnormal GABA-mediated receptor currents ( J:89452 )

• 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

decreased excitatory postsynaptic current amplitude ( J:89452 )

• impaired evoked synaptic transmission in brainstem; even at high stimulation strengths, the amplitudes of excitatory postsynaptic currents are smaller than in controls

reduced AMPA-mediated synaptic currents ( J:89452 )

• large decrease in the frequency of AMPA-receptor mediated spontaneous miniature postsynaptic currents in the neocortex and the brainstem

reduced NMDA-mediated synaptic currents ( J:88641 )

• 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

abnormal synaptic depression ( J:89452 )

• aggravation of short-term synaptic depression within individual stimulus trains and increased synaptic depression during multiple stimulus trains

decreased neurotransmitter release ( J:89452 )

• 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

abnormal paired-pulse inhibition ( J:89452 )

• 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

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Contributing Projects: 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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