| Phenotypic Profile |
| Category |
Entity |
Quantity |
Experimental Paradigm |
Age at Testing |
| Motor phenotype |
Motor coordination and balance2 |
Abnormal
Description: Abnormal muscle coordination
Exp Paradigm: Rota-rod test
|
Accelerating rotarod test |
P21-p27 |
| |
|
Description: Abnormal muscle coordination
Exp Paradigm: Rota-rod test |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Cerebellar morphology5 |
Decreased
Description: Abnormal location of boundary between anterior and posterior cerebellum at the base of intercrural fissure between vi and vii lobes and abnormal staining pattern in 4 regions of cerebellum: crus i, crus ii, paramedial lobe, paraflocculus, and lobe viii & ix
Exp Paradigm: Detection of lacz expression under en-2 enhancer and promoter restricted to granular and molecular layers
|
Histology |
Unreported |
| |
|
Description: Abnormal location of boundary between anterior and posterior cerebellum at the base of intercrural fissure between vi and vii lobes and abnormal staining pattern in 4 regions of cerebellum: crus i, crus ii, paramedial lobe, paraflocculus, and lobe viii & ix
Exp Paradigm: Detection of lacz expression under en-2 enhancer and promoter restricted to granular and molecular layers |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology5 |
Decreased
Description: Decreased cerebellar anlage size; decreased extent of fusion of cerebellar rudiments; decreased size of cerebellum and colliculi
Exp Paradigm: Dissection and histological analysis
|
Histology |
E13.5-e16.5 |
| |
|
Description: Decreased cerebellar anlage size; decreased extent of fusion of cerebellar rudiments; decreased size of cerebellum and colliculi
Exp Paradigm: Dissection and histological analysis |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Neuronal number: interneurons4 |
Decreased
Description: Decreased number of pv and som interneurons in layers ii-iii of somatosensory cortex
Exp Paradigm: Pv, sst
|
In situ hybridization (ish) |
3-5 months |
| |
|
Description: Decreased number of pv and som interneurons in layers ii-iii of somatosensory cortex
Exp Paradigm: Pv, sst |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Cerebellar foliation5 |
Decreased
Description: Delayed fissure formation; absence of ansoparamedial fissure
Exp Paradigm: Comparison of saggital sections of cerebellum
|
Histology |
P0- p7 |
| |
|
Description: Delayed fissure formation; absence of ansoparamedial fissure
Exp Paradigm: Comparison of saggital sections of cerebellum |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Neuronal number: interneurons4 |
Decreased
Description: Decreased number of neuropeptide y, somatostatin, parvalbumin-positive interneurons in the hilus
Exp Paradigm: Npy, sst, pv
|
Immunohistochemistry |
3-5 months |
| |
|
Description: Decreased number of neuropeptide y, somatostatin, parvalbumin-positive interneurons in the hilus
Exp Paradigm: Npy, sst, pv |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Cerebellar foliation5 |
Decreased
Description: Abnormal fissure formation; developmental delay; abnormal development of posterior fissure 2/py; abnormal ixth lobe shape and size; no change in anterior region of cerebellum
Exp Paradigm: Analysis of mid-line sagittal cresyl-violet stained sections
|
Histology |
P0-p9 |
| |
|
Description: Abnormal fissure formation; developmental delay; abnormal development of posterior fissure 2/py; abnormal ixth lobe shape and size; no change in anterior region of cerebellum
Exp Paradigm: Analysis of mid-line sagittal cresyl-violet stained sections |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Hippocampal morphology3 |
Abnormal
Description: Abnormal pyramidal cell layer and mossy fiber pathway; cell loss and tissue sclerosis; increased npy immnoreactivity in mossy fibers of dentate gyrus
Exp Paradigm: Immunostainig for pan-neuronal marker neun; npy immunohistochemistry
|
Immunohistochemistry |
Unreported |
| |
|
Description: Abnormal pyramidal cell layer and mossy fiber pathway; cell loss and tissue sclerosis; increased npy immnoreactivity in mossy fibers of dentate gyrus
Exp Paradigm: Immunostainig for pan-neuronal marker neun; npy immunohistochemistry |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology1 |
Decreased
Description: Decreased cerebellar size, both rostro-caudally and in the mediolateral expansion; abnormal foliation with abnormal fissure pattern, altered branching pattern, and decreased extent of the lobules
Exp Paradigm: Microscopic examination of brain
|
Histology |
8 weeks |
| |
|
Description: Decreased cerebellar size, both rostro-caudally and in the mediolateral expansion; abnormal foliation with abnormal fissure pattern, altered branching pattern, and decreased extent of the lobules
Exp Paradigm: Microscopic examination of brain |
|
|
| Neurophysiology |
Neurotransmitter release: serotonin2 |
Increased
Description: Increased levels of serotonin, 5-hydroxyindolacetic acid in cerebellum; no change in level in hippocampus, striatum, and frontal cortex
Exp Paradigm: Hplc-electrochemical detection
|
High-performance liquid chromatography (hplc) |
3 months |
| |
|
Description: Increased levels of serotonin, 5-hydroxyindolacetic acid in cerebellum; no change in level in hippocampus, striatum, and frontal cortex
Exp Paradigm: Hplc-electrochemical detection |
|
|
| Repetitive behavior |
Self grooming: perseveration2 |
Increased
Description: Increased self grooming behavior
Exp Paradigm: General observations
|
General observations |
3-4 months |
| |
|
Description: Increased self grooming behavior
Exp Paradigm: General observations |
|
|
| Seizure |
Seizure threshold3 |
Increased
Description: Increased susceptibility to kainic acid induced seizures with progression to severe tonic-clonic seizures
Exp Paradigm: Response to 20 mg/kg dose of kainic acid injection
|
Observation of chemically induced seizures |
Unreported |
| |
|
Description: Increased susceptibility to kainic acid induced seizures with progression to severe tonic-clonic seizures
Exp Paradigm: Response to 20 mg/kg dose of kainic acid injection |
|
|
| Social behavior |
Aggression2 |
Decreased
Description: Decreased aggressive behavior; decrease in number of attacks to an intruder mouse
Exp Paradigm: Resident intruder test
|
Resident-intruder test |
4-5 months |
| |
|
Description: Decreased aggressive behavior; decrease in number of attacks to an intruder mouse
Exp Paradigm: Resident intruder test |
|
|
| Social behavior |
Juvenile play2 |
Decreased
Description: Decreased juvenile play, like chasing, pushing under, crawling over the partner, social sniffing, and allogrooming
Exp Paradigm: General observations
|
General observations |
4-6 weeks |
| |
|
Description: Decreased juvenile play, like chasing, pushing under, crawling over the partner, social sniffing, and allogrooming
Exp Paradigm: General observations |
|
|
| Emotion |
Exploratory activity2 |
Decreased
Description: Decreased exploratory behavior
Exp Paradigm: Modified open-field with objects
|
Open field test |
3-4 months |
| |
|
Description: Decreased exploratory behavior
Exp Paradigm: Modified open-field with objects |
|
|
| Learning & memory |
Spatial learning2 |
Decreased
Description: Decreased spatial learning; deficit in performance of hidden platform taks; longer escape latency
Exp Paradigm: Hidden platform test for spatial memory and navigation.
|
Morris water maze test |
Unreported |
| |
|
Description: Decreased spatial learning; deficit in performance of hidden platform taks; longer escape latency
Exp Paradigm: Hidden platform test for spatial memory and navigation. |
|
|
| Molecular profile |
Marker expression3 |
Decreased
Description: Reduced expression of gabaergic markers, parvalbumin and somatostatin in ca3 pyramidal layer and stratum lcunosum moleculare
Exp Paradigm: Gabaergic marker expression
|
Immunohistochemistry |
Unreported |
| |
|
Description: Reduced expression of gabaergic markers, parvalbumin and somatostatin in ca3 pyramidal layer and stratum lcunosum moleculare
Exp Paradigm: Gabaergic marker expression |
|
|
| Molecular profile |
Gene expression3 |
Decreased
Description: Decreased levels in hippocampus and cerebral cortex; increased levels in ventral midbrain and cerebellum
Exp Paradigm: En2 mrna expression
|
Quantitative pcr (qrt-pcr) |
Unreported |
| |
|
Description: Decreased levels in hippocampus and cerebral cortex; increased levels in ventral midbrain and cerebellum
Exp Paradigm: En2 mrna expression |
|
|
| Molecular profile |
Marker expression4 |
Decreased
Description: Decreased mrna expression in somatosensory cortex of pv, npy, and som
Exp Paradigm: Gabaergic marker expression
|
Quantitative pcr (qrt-pcr) |
3-5 months |
| |
|
Description: Decreased mrna expression in somatosensory cortex of pv, npy, and som
Exp Paradigm: Gabaergic marker expression |
|
|
| Molecular profile |
Marker expression4 |
Decreased
Description: Decreased expression of npy, pv, and som mrna
Exp Paradigm: Gabaergic marker expression
|
Quantitative pcr (qrt-pcr) |
3-5 months |
| |
|
Description: Decreased expression of npy, pv, and som mrna
Exp Paradigm: Gabaergic marker expression |
|
|
| Molecular profile |
Protein expression level evidence1 |
Decreased
Description: Decreased en2 protein expression
Exp Paradigm: En2 protein expression
|
Western blot |
P9.5 |
| |
|
Description: Decreased en2 protein expression
Exp Paradigm: En2 protein expression |
|
|
| Molecular profile |
Gene expression3 |
Increased
Description: Increased c-fos and c-jun, immediate early genes, mrna in layers 2-3 and 5-6
Exp Paradigm: Immediate early gene (ieg) induction
|
In situ hybridization (ish) |
Unreported |
| |
|
Description: Increased c-fos and c-jun, immediate early genes, mrna in layers 2-3 and 5-6
Exp Paradigm: Immediate early gene (ieg) induction |
|
|
| Developmental profile |
General characteristics3 |
No change |
General observations |
Unreported |
| Developmental profile |
General characteristics1 |
No change |
General observations |
Unreported |
| Molecular profile |
Marker expression4 |
No change |
Quantitative pcr (qrt-pcr) |
3-5 months |
| Molecular profile |
Marker expression4 |
No change |
Quantitative pcr (qrt-pcr) |
3-5 months |
| Molecular profile |
Protein expression level evidence1 |
No change |
Western blot |
P8.5, p9.5 |
| Motor phenotype |
General locomotor activity2 |
No change |
Open field test |
3-4 weeks |
| Motor phenotype |
Motor coordination and balance1 |
No change |
Accelerating rotarod test |
Unreported |
| Motor phenotype |
Negative geotaxis2 |
No change |
Negative geotaxis test |
3-4 weeks |
| Motor phenotype |
Righting response1 |
No change |
Righting reflex test |
Unreported |
| Motor phenotype |
Righting response2 |
No change |
Righting reflex test |
3-4 weeks |
| Motor phenotype |
Swimming ability1 |
No change |
Swim test |
Unreported |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain anatomy1 |
No change |
Microscopic analysis |
P8, p9, p12 |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology5 |
No change |
Histology |
E17.5 |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology1 |
No change |
Histology |
2 months |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Hippocampal morphology4 |
No change |
Photomicrographic analysis |
3-5 months |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Neuronal number: interneurons4 |
No change |
Immunohistochemistry |
3-5 months |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Neuronal number: interneurons4 |
No change |
In situ hybridization (ish) |
3-5 months |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Neuronal number: interneurons4 |
No change |
In situ hybridization (ish) |
3-5 months |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Somatosensory cortical map architecture4 |
No change |
Immunohistochemistry |
3-5 months |
| Sensory |
Vision2 |
No change |
Morris water maze test |
Unreported |
|
| Not Reported: |
Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior, |
