| Phenotypic Profile |
| Category |
Entity |
Quantity |
Experimental Paradigm |
Age at Testing |
| Motor phenotype |
Motor coordination and balance1 |
Decreased
Description: Mutants show decreased motor coordination compared to controls measured by the increased step time. however, mutants show no change in the number of missteps or the decrease in the number of missteps over trials, compared to controls.
Exp Paradigm: Number of runs, missteps and step time was measured.
|
Erasmus ladder test |
2-3 months |
| |
|
Description: Mutants show decreased motor coordination compared to controls measured by the increased step time. however, mutants show no change in the number of missteps or the decrease in the number of missteps over trials, compared to controls.
Exp Paradigm: Number of runs, missteps and step time was measured. |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Neuroreceptor levels: glutamate receptors: nmda receptors1 |
Increased
Description: Mutants show increased in mglur1alpha protein but not transcript, compared to controls. mutants show no change in the expression of mglur2 and mglur7, compared to controls.
Exp Paradigm: Quantitative pcr (qrt-pcr)
|
Quantitative pcr (qrt-pcr) |
2-3 months |
| |
|
Description: Mutants show increased in mglur1alpha protein but not transcript, compared to controls. mutants show no change in the expression of mglur2 and mglur7, compared to controls.
Exp Paradigm: Quantitative pcr (qrt-pcr) |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Anatomical projections and connectivity1 |
Abnormal
Description: Mutants show invasion of vglut2+ terminals into the distal molecular layer and increased density of vglut2 positive puncta on distal purkinje cell dendritic trees, compared to controls.
Exp Paradigm: NA
|
Histology |
2-3 months |
| |
|
Description: Mutants show invasion of vglut2+ terminals into the distal molecular layer and increased density of vglut2 positive puncta on distal purkinje cell dendritic trees, compared to controls.
Exp Paradigm: NA |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Synapse density3 |
Increased
Description: Increase in oxtr puncta in the vta th positive neurons
Exp Paradigm: oxtr
|
Immunohistochemistry |
Adult |
| |
|
Description: Increase in oxtr puncta in the vta th positive neurons
Exp Paradigm: oxtr |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Neuroreceptor levels: glutamate receptors: nmda receptors1 |
Increased
Description: Mutants show increased in mglur1alpha protein but not transcript, compared to controls. mutants show no change in the expression of mglur2 and mglur7, compared to controls.
Exp Paradigm: Western blot
|
Western blot |
2-3 months |
| |
|
Description: Mutants show increased in mglur1alpha protein but not transcript, compared to controls. mutants show no change in the expression of mglur2 and mglur7, compared to controls.
Exp Paradigm: Western blot |
|
|
| Neurophysiology |
Miniature post synaptic current amplitude: excitatory1 |
Decreased
Description: Mutants show decreased mepscs in purkinjee cells compared to controls.
Exp Paradigm: NA
|
Whole-cell patch clamp |
3-4 weeks |
| |
|
Description: Mutants show decreased mepscs in purkinjee cells compared to controls.
Exp Paradigm: NA |
|
|
| Neurophysiology |
Action potential property: firing rate3 |
Decreased
Description: Slightly reduced frequency of baseline firing of vta da neurons; bath application of oxytocin increased firing frequency in cells from wild-type mice but had no effect in mutant slices
|
Whole-cell current clamp |
P27-35 |
| |
|
Description: Slightly reduced frequency of baseline firing of vta da neurons; bath application of oxytocin increased firing frequency in cells from wild-type mice but had no effect in mutant slices
|
|
|
| Neurophysiology |
Synaptic plasticity: cerebellar ltd1 |
Decreased
Description: Mutants show no cerebellar ltd compared to wildtype controls that show persistent reduction of epsc amplitudes on application of the group i mglur agonist dhpg.
Exp Paradigm: Reduction of epsc amplitudes on application of the group i mglur agonist dhpg was measured in cerebellar slices.
|
Whole-cell patch clamp |
2-3 months |
| |
|
Description: Mutants show no cerebellar ltd compared to wildtype controls that show persistent reduction of epsc amplitudes on application of the group i mglur agonist dhpg.
Exp Paradigm: Reduction of epsc amplitudes on application of the group i mglur agonist dhpg was measured in cerebellar slices. |
|
|
| Neurophysiology |
Miniature post synaptic current amplitude: excitatory1 |
Increased
Description: Mutants show elevated evoked epsc amplitude in climbing fibers compared to controls.
Exp Paradigm: Evoked epsc amplitude was measured in climbing fibers.
|
Whole-cell patch clamp |
2-3 months |
| |
|
Description: Mutants show elevated evoked epsc amplitude in climbing fibers compared to controls.
Exp Paradigm: Evoked epsc amplitude was measured in climbing fibers. |
|
|
| Repetitive behavior |
Repetitive digging3 |
Decreased
Description: Decreased numbers of marbles buried
|
Marble-burying test |
4 weeks |
| |
|
Description: Decreased numbers of marbles buried
|
|
|
| Social behavior |
Social interaction3 |
Decreased
Description: Decreased time spent in social interaction
|
Habituation-dishabituation test |
4 weeks |
| |
|
Description: Decreased time spent in social interaction
|
|
|
| Social behavior |
Social memory3 |
Decreased
Description: Impaired social novelty responses measured by decrease in time spent interacting with an unfamiliar mouse on the 5ht trial; no change in progressive decrease in time spent interacting with a social stimulus on successive trials
|
Habituation-dishabituation test |
4 weeks |
| |
|
Description: Impaired social novelty responses measured by decrease in time spent interacting with an unfamiliar mouse on the 5ht trial; no change in progressive decrease in time spent interacting with a social stimulus on successive trials
|
|
|
| Social behavior |
Social memory3 |
Decreased
Description: Decreased social recognition index
|
Habituation-dishabituation test |
4 weeks |
| |
|
Description: Decreased social recognition index
|
|
|
| Molecular profile |
Protein localization: synapse1 |
Decreased
Description: Mutants show no nlgn3 protein localization in vglut2 positive or vgat positive synapses of purkinje cells and climbing fibers compared to controls.
Exp Paradigm: NA
|
Histology |
2-3 months |
| |
|
Description: Mutants show no nlgn3 protein localization in vglut2 positive or vgat positive synapses of purkinje cells and climbing fibers compared to controls.
Exp Paradigm: NA |
|
|
| Molecular profile |
Targeted expression1 |
Decreased
Description: Mutants show no nlgn3 protein expression in cerebellar glomerular layer cells and the mossy fiber terminals in the inner granular layer of the cerebellum, compared to controls.
Exp Paradigm: Western blot
|
Western blot |
2-3 months |
| |
|
Description: Mutants show no nlgn3 protein expression in cerebellar glomerular layer cells and the mossy fiber terminals in the inner granular layer of the cerebellum, compared to controls.
Exp Paradigm: Western blot |
|
|
| Molecular profile |
Regulation of translation3 |
Abnormal
Description: Dysregulation of translational machinery in vta tissue showing increase in core proteins of cytoplasmic but not mitochondrial ribosomes
|
Tandem mass tagging (TMT) |
4 weeks |
| |
|
Description: Dysregulation of translational machinery in vta tissue showing increase in core proteins of cytoplasmic but not mitochondrial ribosomes
|
|
|
| Molecular profile |
Gene expression3 |
Increased
Description: Increase in oxtr mrna in vta da neurons indicating impaired oxytocin signalling in dopaminergic neurons
Exp Paradigm: oxtr
|
Fluorescence in situ hybridization (FISH) |
Adult |
| |
|
Description: Increase in oxtr mrna in vta da neurons indicating impaired oxytocin signalling in dopaminergic neurons
Exp Paradigm: oxtr |
|
|
| Molecular profile |
Targeted expression1 |
Decreased
Description: Mutants show no nlgn3 protein expression in cerebellar glomerular layer cells and the mossy fiber terminals in the inner granular layer of the cerebellum, compared to controls.
Exp Paradigm: Histology
|
Histology |
2-3 months |
| |
|
Description: Mutants show no nlgn3 protein expression in cerebellar glomerular layer cells and the mossy fiber terminals in the inner granular layer of the cerebellum, compared to controls.
Exp Paradigm: Histology |
|
|
| Molecular profile |
Proteomic profile diversity3 |
Abnormal
Description: Dysregulation of protein transport, cell adhesion, mrna translation, membrane trafficking and g-protein-coupled receptor (gpcr) signaling
|
Shotgun sequencing |
Adult |
| |
|
Description: Dysregulation of protein transport, cell adhesion, mrna translation, membrane trafficking and g-protein-coupled receptor (gpcr) signaling
|
|
|
| Molecular profile |
Targeted expression2 |
Decreased
Description: Mutants show decreased expression of nlgn3 compared to controls.
Exp Paradigm: Calbindin and actin are used as loading controls.
|
Western blot |
Unreported |
| |
|
Description: Mutants show decreased expression of nlgn3 compared to controls.
Exp Paradigm: Calbindin and actin are used as loading controls. |
|
|
| Molecular profile |
Protein phosphorylation1 |
Increased
Description: Mutants show increase in basal glua2 phosphorylation at serine 880 compared to the wild-type. however, upon dhpg stimulation, phospho-glua2 levels were decreased in mutant mice but increased in wildtype mice, probably due to mglur-stimulated degradation of the phosphorylated form of glua2
Exp Paradigm: Dhpg, a potent agonist of group i metabotropic glutamate receptors mglur1 and mglur5, is used in a functional assay.
|
Western blot |
2-3 months |
| |
|
Description: Mutants show increase in basal glua2 phosphorylation at serine 880 compared to the wild-type. however, upon dhpg stimulation, phospho-glua2 levels were decreased in mutant mice but increased in wildtype mice, probably due to mglur-stimulated degradation of the phosphorylated form of glua2
Exp Paradigm: Dhpg, a potent agonist of group i metabotropic glutamate receptors mglur1 and mglur5, is used in a functional assay. |
|
|
| Molecular profile |
Regulation of translation3 |
Abnormal
Description: Signaling-dependent disruption of translation homeostasis in the ventral tegmental area indicated by increased incorporation of aha in vta da neurons
|
Immunohistochemistry |
4 weeks |
| |
|
Description: Signaling-dependent disruption of translation homeostasis in the ventral tegmental area indicated by increased incorporation of aha in vta da neurons
|
|
|
| Developmental profile |
Size/growth3 |
No change |
Marble-burying test |
4 weeks |
| Emotion |
Anxiety3 |
No change |
Open field test |
4 weeks |
| Emotion |
Exploratory activity: Habituation3 |
No change |
Habituation-dishabituation test |
4 weeks |
| Learning & memory |
Object recognition memory3 |
No change |
Habituation-dishabituation test |
4 weeks |
| Molecular profile |
Gene expression1 |
No change |
Quantitative pcr (qrt-pcr) |
2-3 months |
| Molecular profile |
Protein expression level evidence2 |
No change |
Western blot |
Unreported |
| Molecular profile |
Protein expression level evidence1 |
No change |
Histology |
2-3 months |
| Molecular profile |
Protein expression level evidence1 |
No change |
Western blot |
2-3 months |
| Molecular profile |
Protein expression level evidence3 |
No change |
Western blot |
4 weeks |
| Motor phenotype |
General locomotor activity3 |
No change |
Open field test |
4 weeks |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Anatomical projections and connectivity3 |
No change |
Immunohistochemistry |
Adult |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Cerebellar morphology1 |
No change |
Histology |
2-3 months |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Neuronal number1 |
No change |
Whole-cell patch clamp |
2-3 months |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Neuronal number: Oxytocin expressing3 |
No change |
Immunohistochemistry |
Adult |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Neuroreceptor levels: glutamate receptors: nmda receptors1 |
No change |
Western blot |
2-3 months |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Neuroreceptor levels: OXT3 |
No change |
Targeted parallel reaction monitoring assay (PRM LC-MS) |
Adult |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Neuroreceptor levels: Vasopressin3 |
No change |
Fluorescence in situ hybridization (FISH) |
Adult |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Neuroreceptor levels: Vasopressin3 |
No change |
Targeted parallel reaction monitoring assay (PRM LC-MS) |
Adult |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Synapse density1 |
No change |
Immunohistochemistry |
2-3 months |
| Neurophysiology |
Decay kinetics of miniature post synaptic currents1 |
No change |
Whole-cell patch clamp |
2-3 months |
| Neurophysiology |
Hyperpolarization activated cation currents3 |
No change |
Whole-cell patch clamp |
P27-35 |
| Neurophysiology |
Intrinsic membrane properties3 |
No change |
Whole-cell current clamp |
P27-35 |
| Neurophysiology |
Membrane potential3 |
No change |
Whole-cell current clamp |
P27-35 |
| Neurophysiology |
Presynaptic function: paired-pulse facilitation1 |
No change |
Paired-pulse ratio |
2-3 months |
| Neurophysiology |
Synaptic plasticity: cerebellar ltd2 |
No change |
Whole-cell patch clamp |
P21-25 |
|
| Not Reported: |
Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior, |
