| Phenotypic Profile |
| Category |
Entity |
Quantity |
Experimental Paradigm |
Age at Testing |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Synapse density: inhibitory1 |
Increased
Description: Mutants show no change in gephyrin expression in the cerebellum compared with controls, a marker of inhibitory synapses.
Exp Paradigm: NA
|
Western blot |
2 months |
| |
|
Description: Mutants show no change in gephyrin expression in the cerebellum compared with controls, a marker of inhibitory synapses.
Exp Paradigm: NA |
|
|
| Neurophysiology |
Miniature post synaptic current frequency: excitatory1 |
Increased
Description: Mutants show increase in frequency of miniature spontaneous excitatory postsynatptic currents in the cerebellum compared with controls in the cerebellar purkinje cells.
Exp Paradigm: NA
|
Whole-cell patch clamp |
2 months |
| |
|
Description: Mutants show increase in frequency of miniature spontaneous excitatory postsynatptic currents in the cerebellum compared with controls in the cerebellar purkinje cells.
Exp Paradigm: NA |
|
|
| Molecular profile |
Protein degradation: proteasome1 |
Increased
Description: Mutants show increased mutant protein levels in the brain following treatment with proteasomal inhibitor, compared with control, indicating preferential proteasomal degradation of the mutant protein.
Exp Paradigm: Mice were injected with proteasome inhibitor mg132 between p4 and p20.
|
Western blot |
P20 |
| |
|
Description: Mutants show increased mutant protein levels in the brain following treatment with proteasomal inhibitor, compared with control, indicating preferential proteasomal degradation of the mutant protein.
Exp Paradigm: Mice were injected with proteasome inhibitor mg132 between p4 and p20. |
|
|
| Molecular profile |
Protein localization: endoplasmic reticulum1 |
Increased
Description: Mutants show that r451c mutant protein is partially retained in the endoplasmic reticulum compared to controls, as indicated by immature n-linked glycosylation detectable through endoglycosidase h sensitivity.
Exp Paradigm: Endoglycosidase h enzymatic assay
|
Western blot |
E18 |
| |
|
Description: Mutants show that r451c mutant protein is partially retained in the endoplasmic reticulum compared to controls, as indicated by immature n-linked glycosylation detectable through endoglycosidase h sensitivity.
Exp Paradigm: Endoglycosidase h enzymatic assay |
|
|
| Molecular profile |
Gene expression1 |
Increased
Description: Mutants show brain region specific increase in activation of the upr pathway during development compared with controls, as measured by the levels of the chaperone bip in the cerebellum but not the encephalon. mutants show increase in bip levels in the cerebellum compared to controls but not in the hippocampus or cerebral cortex, during adulthood. mutants show increase in tunicamycin induced upr activation in the cerebellum but not in the hippocampus compared with controls.
Exp Paradigm: NA
|
Quantitative pcr (qrt-pcr) |
E18, 2months |
| |
|
Description: Mutants show brain region specific increase in activation of the upr pathway during development compared with controls, as measured by the levels of the chaperone bip in the cerebellum but not the encephalon. mutants show increase in bip levels in the cerebellum compared to controls but not in the hippocampus or cerebral cortex, during adulthood. mutants show increase in tunicamycin induced upr activation in the cerebellum but not in the hippocampus compared with controls.
Exp Paradigm: NA |
|
|
| Molecular profile |
Protein expression: in situ protein expression1 |
Abnormal
Description: Mutants show increased and differently distributed expression of kdel containing er proteins, chaperones bip, grp94, and pdi, compared with controls, in cerebellar purkinje cells and misexpression of kdel proteins in the granule layer in the mutants.
Exp Paradigm: NA
|
Western blot |
2 months |
| |
|
Description: Mutants show increased and differently distributed expression of kdel containing er proteins, chaperones bip, grp94, and pdi, compared with controls, in cerebellar purkinje cells and misexpression of kdel proteins in the granule layer in the mutants.
Exp Paradigm: NA |
|
|
| Molecular profile |
Targeted expression1 |
Decreased
Description: Mutants show decrease in nlgn3 expression and decrease in the progressive increase in expression in the whole brain and in the cerebellum, cortex and hippocampus, compared with controls.
Exp Paradigm: NA
|
Western blot |
E12, 14, 16, 18, p5, 3 weeks, 2 months |
| |
|
Description: Mutants show decrease in nlgn3 expression and decrease in the progressive increase in expression in the whole brain and in the cerebellum, cortex and hippocampus, compared with controls.
Exp Paradigm: NA |
|
|
| Molecular profile |
Protein expression level evidence1 |
Increased
Description: Mutants show increased bip protein level in the cerebellum but not in the hippocampus or cortex compared with controls. mutants show increased level of nlgn1 protein compared with controls, usually located in excitatory synapses.
Exp Paradigm: NA
|
Western blot |
2 months |
| |
|
Description: Mutants show increased bip protein level in the cerebellum but not in the hippocampus or cortex compared with controls. mutants show increased level of nlgn1 protein compared with controls, usually located in excitatory synapses.
Exp Paradigm: NA |
|
|
| Molecular profile |
Protein phosphorylation1 |
Increased
Description: Mutants show increase in phosphorylated eif2alpha levels in the cerebellum but not in the hippocampus or cortex compared with controls,
Exp Paradigm: NA
|
Western blot |
2 months |
| |
|
Description: Mutants show increase in phosphorylated eif2alpha levels in the cerebellum but not in the hippocampus or cortex compared with controls,
Exp Paradigm: NA |
|
|
| Molecular profile |
Protein expression level evidence1 |
No change |
Western blot |
2 months |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Synapse density: excitatory1 |
No change |
Western blot |
2 months |
| Neurophysiology |
Miniature post synaptic current amplitude: excitatory1 |
No change |
Whole-cell patch clamp |
2 months |
|
| Not Reported: |
Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior, |
