| Phenotypic Profile |
| Category |
Entity |
Quantity |
Experimental Paradigm |
Age at Testing |
| Motor phenotype |
General locomotor activity1 |
Decreased
Description: Decreased locomotor activity
Exp Paradigm: Open field test
|
Open field test |
Unreported |
| |
|
Description: Decreased locomotor activity
Exp Paradigm: Open field test |
|
|
| Motor phenotype |
Motor coordination and balance1 |
Decreased
Description: Decreased muscle coordination
Exp Paradigm: Wire suspension test
|
Wire hang test |
3 months |
| |
|
Description: Decreased muscle coordination
Exp Paradigm: Wire suspension test |
|
|
| Motor phenotype |
Jerky movement1 |
Decreased
Description: Rapid and repetitive movement of forelimbs.
Exp Paradigm: Evaluation of movement when suspended by tail
|
Tail suspension test |
Unreported |
| |
|
Description: Rapid and repetitive movement of forelimbs.
Exp Paradigm: Evaluation of movement when suspended by tail |
|
|
| Motor phenotype |
Motor coordination and balance1 |
Decreased
Description: Decreased muscle coordination exhibited by mice tending to drop off early from wire.
Exp Paradigm: Wire suspension test
|
Wire hang test |
3 months |
| |
|
Description: Decreased muscle coordination exhibited by mice tending to drop off early from wire.
Exp Paradigm: Wire suspension test |
|
|
| Motor phenotype |
General locomotor activity1 |
Decreased
Description: Decreased general locomotor activity
Exp Paradigm: Activity chamber monitoring
|
Open field test |
Unreported |
| |
|
Description: Decreased general locomotor activity
Exp Paradigm: Activity chamber monitoring |
|
|
| Motor phenotype |
Motor coordination and balance1 |
Decreased
Description: Decreased muscle coordination
Exp Paradigm: Vertical pole test
|
Vertical pole test |
3 months |
| |
|
Description: Decreased muscle coordination
Exp Paradigm: Vertical pole test |
|
|
| Motor phenotype |
Jerky movement1 |
Increased
Description: Increased jerky movements
Exp Paradigm: Evaluation of movement when suspended by tail
|
Tail suspension test |
Unreported |
| |
|
Description: Increased jerky movements
Exp Paradigm: Evaluation of movement when suspended by tail |
|
|
| Motor phenotype |
Motor coordination and balance1 |
Decreased
Description: Decreased muscle coordination exhibited by mice rapidly losing balance and falling off dowel.
Exp Paradigm: Motor coordination measured by ability of mice to remain on a horizontal dowel for 120 s
|
Dowel walk test |
3 months |
| |
|
Description: Decreased muscle coordination exhibited by mice rapidly losing balance and falling off dowel.
Exp Paradigm: Motor coordination measured by ability of mice to remain on a horizontal dowel for 120 s |
|
|
| Motor phenotype |
Motor coordination and balance1 |
Decreased
Description: Decreased muscle coordination
Exp Paradigm: Motor coordination measured by ability of mice to remain on a horizontal dowel for 120 s
|
Dowel walk test |
3 months |
| |
|
Description: Decreased muscle coordination
Exp Paradigm: Motor coordination measured by ability of mice to remain on a horizontal dowel for 120 s |
|
|
| Motor phenotype |
General locomotor activity1 |
Decreased
Description: Lower activity as measured by total distance traveled and time spent moving
Exp Paradigm: Open field test
|
Open field test |
Unreported |
| |
|
Description: Lower activity as measured by total distance traveled and time spent moving
Exp Paradigm: Open field test |
|
|
| Motor phenotype |
Motor coordination and balance1 |
Decreased
Description: Decreased muscle coordination exhibited by mice falling off pole more readily
Exp Paradigm: Vertical pole test
|
Vertical pole test |
3 months |
| |
|
Description: Decreased muscle coordination exhibited by mice falling off pole more readily
Exp Paradigm: Vertical pole test |
|
|
| Motor phenotype |
Motor coordination and balance1 |
Decreased
Description: Decreased muscle coordination
Exp Paradigm: Modified rota-rod test for motor performance and coordination through elimination of grips from rod
|
Accelerating rotarod test |
5 months |
| |
|
Description: Decreased muscle coordination
Exp Paradigm: Modified rota-rod test for motor performance and coordination through elimination of grips from rod |
|
|
| Motor phenotype |
Motor coordination and balance1 |
Decreased
Description: Small but significant impairment in muscle coordination
Exp Paradigm: Modified rota-rod test for motor performance and coordination through eliminatino of grips from rod
|
Accelerating rotarod test |
5 months |
| |
|
Description: Small but significant impairment in muscle coordination
Exp Paradigm: Modified rota-rod test for motor performance and coordination through eliminatino of grips from rod |
|
|
| Seizure |
Seizures1 |
Increased
Description: Spontaneous behavioral myoclonic jerks and seizures
Exp Paradigm: Electroencephalographic analysis (eeg) and video recordings
|
Electroencephalogram (eeg) |
7 months |
| |
|
Description: Spontaneous behavioral myoclonic jerks and seizures
Exp Paradigm: Electroencephalographic analysis (eeg) and video recordings |
|
|
| Seizure |
Seizures1 |
Increased
Description: Behavioral arrest followed by a series of repetitive, generalized myoclonic jerks coupled with high-amplitude bilateral cortical spikes and wave eeg discharge
Exp Paradigm: Electroencephalographic analysis (eeg) and video recordings
|
Electroencephalogram (eeg) |
7 months |
| |
|
Description: Behavioral arrest followed by a series of repetitive, generalized myoclonic jerks coupled with high-amplitude bilateral cortical spikes and wave eeg discharge
Exp Paradigm: Electroencephalographic analysis (eeg) and video recordings |
|
|
| Social behavior |
Social interaction1 |
Decreased
Description: Decreased sociability as measured by time spent in social side/area
Exp Paradigm: Sociability preference
|
Three-chamber social approach test |
5.7 weeks |
| |
|
Description: Decreased sociability as measured by time spent in social side/area
Exp Paradigm: Sociability preference |
|
|
| Social behavior |
Social interaction1 |
Decreased
Description: Decreased social barrier interaction as measured by time active near stranger
Exp Paradigm: Barrier social interaction
|
Partition test |
Unreported |
| |
|
Description: Decreased social barrier interaction as measured by time active near stranger
Exp Paradigm: Barrier social interaction |
|
|
| Emotion |
Anxiety1 |
Increased
Description: Increased anxiety as reflected by lower exploration of center of open field
Exp Paradigm: Open field test
|
Open field test |
Unreported |
| |
|
Description: Increased anxiety as reflected by lower exploration of center of open field
Exp Paradigm: Open field test |
|
|
| Emotion |
Anxiety1 |
Increased
Description: Increased anxiety
Exp Paradigm: Open field test
|
Open field test |
Unreported |
| |
|
Description: Increased anxiety
Exp Paradigm: Open field test |
|
|
| Emotion |
Anxiety1 |
Decreased
Description: Decreased anxiety indicated by more time spent in open arms
Exp Paradigm: Elevated plus maze test
|
Elevated plus maze test |
4 weeks |
| |
|
Description: Decreased anxiety indicated by more time spent in open arms
Exp Paradigm: Elevated plus maze test |
|
|
| Molecular profile |
Chromatin modification1 |
Abnormal
Description: Elevated levels in cerebellum, cerebral cortex, spleen with higher degree of alteration in cortex over cerebellum in the brain. unaltered in liver.
Exp Paradigm: Acetylation of histone h3
|
Western blot |
Unreported |
| |
|
Description: Elevated levels in cerebellum, cerebral cortex, spleen with higher degree of alteration in cortex over cerebellum in the brain. unaltered in liver.
Exp Paradigm: Acetylation of histone h3 |
|
|
| Molecular profile |
Chromatin modification1 |
Abnormal
Description: Abnormal acetylation of histone h3
Exp Paradigm: Acetylation of histone h3
|
Western blot |
Unreported |
| |
|
Description: Abnormal acetylation of histone h3
Exp Paradigm: Acetylation of histone h3 |
|
|
| Communications |
Ultrasonic vocalization1 |
No change |
Monitoring ultrasonic vocalizations |
P16 |
| Developmental profile |
General characteristics1 |
No change |
General observations |
6 weeks |
| Developmental profile |
General characteristics1 |
No change |
General observations |
6 weeks |
| Learning & memory |
Cued or contextual fear conditioning1 |
No change |
Fear conditioning test |
3, 5 months |
| Learning & memory |
Cued or contextual fear conditioning: memory of cue1 |
No change |
Fear conditioning test |
3, 5 months |
| Learning & memory |
Spatial learning1 |
No change |
Morris water maze test |
3, 5 months |
| Learning & memory |
Spatial learning1 |
No change |
Morris water maze test |
3, 5 months |
| Learning & memory |
Spatial reference memory1 |
No change |
Morris water maze test |
Unreported |
| Molecular profile |
Chromatin modification1 |
No change |
Western blot |
Unreported |
| Molecular profile |
Chromatin modification1 |
No change |
Western blot |
Unreported |
| Molecular profile |
Dna methylation1 |
No change |
Dot-blot analysis |
Unreported |
| Molecular profile |
Gene expression1 |
No change |
Quantitative pcr (qrt-pcr) |
Unreported |
| Molecular profile |
Protein expression level evidence1 |
No change |
Laser scanning cytometry |
Unreported |
| Motor phenotype |
Grip strength1 |
No change |
Grip strength test |
Unreported |
| Motor phenotype |
Grip strength1 |
No change |
Grip strength test |
Unreported |
| Motor phenotype |
Motor coordination and balance1 |
No change |
Accelerating rotarod test |
3 months |
| Motor phenotype |
Motor coordination and balance1 |
No change |
Accelerating rotarod test |
3 months |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain anatomy1 |
No change |
Immunohistochemistry |
Unreported |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain anatomy1 |
No change |
Immunohistochemistry |
Unreported |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology1 |
No change |
Histology |
Unreported |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology1 |
No change |
Histology |
Unreported |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain size1 |
No change |
Pathology |
Unreported |
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain size1 |
No change |
Pathology |
Unreported |
| Social behavior |
Aggression1 |
No change |
Resident-intruder test |
6 months |
| Social behavior |
Aggression1 |
No change |
Resident-intruder test |
6 months |
|
| Not Reported: |
Circadian sleep/wake cycle, Communications, Developmental profile, Immune response, Maternal behavior, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, |
