| Phenotypic Profile |
| Category |
Entity |
Quantity |
Experimental Paradigm |
Age at Testing |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology1 |
Decreased
Description: Decreased area density of normal asymmetric or type i synapse; no difference in area density for symmetric or type ii synaptic contacts; abnormal characterization of type ii synapses with abnormal sv distribution, cleft morphology, and inapparent postsynaptic density
Exp Paradigm: Electron microscopy in the rostral ventrolateral medulla (rvlm)
|
Electron microscopy |
E18 |
| |
|
Description: Decreased area density of normal asymmetric or type i synapse; no difference in area density for symmetric or type ii synaptic contacts; abnormal characterization of type ii synapses with abnormal sv distribution, cleft morphology, and inapparent postsynaptic density
Exp Paradigm: Electron microscopy in the rostral ventrolateral medulla (rvlm) |
|
|
| Neurophysiology |
Synaptic transmission1 |
Abnormal
Description: No change in amplitude of evoked ipscs; increased failure rate of stimulation-evoked ipscs
Exp Paradigm: Evoked ipscs of nh neurons in the presenc of 10m cnqx and 40m apv by extraceulluar field stimulation in the rvlm region
|
Whole-cell patch clamp |
E18 |
| |
|
Description: No change in amplitude of evoked ipscs; increased failure rate of stimulation-evoked ipscs
Exp Paradigm: Evoked ipscs of nh neurons in the presenc of 10m cnqx and 40m apv by extraceulluar field stimulation in the rvlm region |
|
|
| Neurophysiology |
Synaptic transmission1 |
Decreased
Description: Decreased synaptic transmission: decreased frequency of spontaneous excitatory postsynaptic currents(sepscs), no change in amplitude; decreased frequency of miniature epscs
Exp Paradigm: Whole-cell recordings from nh neurons in the presence of 1m bicuculline and 1m strychnine; 0.5m strychnine
|
Whole-cell patch clamp |
E18 |
| |
|
Description: Decreased synaptic transmission: decreased frequency of spontaneous excitatory postsynaptic currents(sepscs), no change in amplitude; decreased frequency of miniature epscs
Exp Paradigm: Whole-cell recordings from nh neurons in the presence of 1m bicuculline and 1m strychnine; 0.5m strychnine |
|
|
| Neurophysiology |
Synaptic transmission1 |
Decreased
Description: Decreased synaptic transmission: decreased amplitude and frequency of spontaneous inhibitory postsynaptic currents (sipscs); reduced frequency of mipscs
Exp Paradigm: Whole-cell recordings in rvlm neurons in the presence of 10m cnqx and 40m 2-amino-5-phsphonovaleric acid (apv)
|
Whole-cell patch clamp |
E18 |
| |
|
Description: Decreased synaptic transmission: decreased amplitude and frequency of spontaneous inhibitory postsynaptic currents (sipscs); reduced frequency of mipscs
Exp Paradigm: Whole-cell recordings in rvlm neurons in the presence of 10m cnqx and 40m 2-amino-5-phsphonovaleric acid (apv) |
|
|
| Developmental profile |
Mortality/lethality1 |
Abnormal
Description: Perinatal lethality; cyanotic, no spontaneous movement or reaction to tacticle stimuli; umblilical hernia; enlarged inerscapular fat pad
Exp Paradigm: General observations
|
General observations |
Unreported |
| |
|
Description: Perinatal lethality; cyanotic, no spontaneous movement or reaction to tacticle stimuli; umblilical hernia; enlarged inerscapular fat pad
Exp Paradigm: General observations |
|
|
| Molecular profile |
Protein expression level evidence1 |
Decreased
Description: Decreased expression of synaptic vesicle membran proteins: synaptophysin and sv2; decreased expression of sv-associated adaptor/scaffolding proteins: synapsin i and mint-1
Exp Paradigm: Synaptic marker protein expression
|
Western blot |
E18 |
| |
|
Description: Decreased expression of synaptic vesicle membran proteins: synaptophysin and sv2; decreased expression of sv-associated adaptor/scaffolding proteins: synapsin i and mint-1
Exp Paradigm: Synaptic marker protein expression |
|
|
| Molecular profile |
Protein expression level evidence1 |
Decreased
Description: Absence of nbea protein expression in brain homogenates
Exp Paradigm: Nbea protein expression
|
Western blot |
Unreported |
| |
|
Description: Absence of nbea protein expression in brain homogenates
Exp Paradigm: Nbea protein expression |
|
|
| Molecular profile |
Gene expression1 |
Abnormal
Description: Abnormal splicing from exon 6 onto gene-trap splice acceptor
Exp Paradigm: Nbea rna expression
|
Quantitative pcr (qrt-pcr) |
Unreported |
| |
|
Description: Abnormal splicing from exon 6 onto gene-trap splice acceptor
Exp Paradigm: Nbea rna expression |
|
|
| Developmental profile |
Cardiovascular development and function1 |
No change |
General observations |
Unreported |
| Molecular profile |
Protein expression level evidence1 |
No change |
Western blot |
E18 |
| Neurophysiology |
Synaptic transmission1 |
No change |
Whole-cell patch clamp |
E18 |
|
| Not Reported: |
Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior, |