| Phenotypic Profile |
| Category |
Entity |
Quantity |
Experimental Paradigm |
Age at Testing |
| Motor phenotype |
Grip strength1 |
Decreased
Description: Decreased grip/muscle strength demonstrated by decreased latency to fall on a wire hang
Exp Paradigm: Hanging wire assay
|
Wire hang test |
9 weeks |
| |
|
Description: Decreased grip/muscle strength demonstrated by decreased latency to fall on a wire hang
Exp Paradigm: Hanging wire assay |
|
|
| Motor phenotype |
Motor coordination and balance1 |
Abnormal
Description: Abnormal muscle coordination demonstrated by increased foot slips
Exp Paradigm: Wire grid assay
|
Footslip test |
5 weeks |
| |
|
Description: Abnormal muscle coordination demonstrated by increased foot slips
Exp Paradigm: Wire grid assay |
|
|
| Motor phenotype |
General locomotor activity1 |
Decreased
Description: Decreased locomotor activtivity leading to hypactivity
Exp Paradigm: Open field test
|
Open field test |
12-19 weeks |
| |
|
Description: Decreased locomotor activtivity leading to hypactivity
Exp Paradigm: Open field test |
|
|
| Motor phenotype |
Motor coordination and balance1 |
Abnormal
Description: Abnormal muscle coordination demonstrated by impaired dowel walk
Exp Paradigm: Dowel walking test
|
Dowel walk test |
9 weeks |
| |
|
Description: Abnormal muscle coordination demonstrated by impaired dowel walk
Exp Paradigm: Dowel walking test |
|
|
| Motor phenotype |
Motor coordination and balance1 |
Abnormal
Description: Abnormal muscle coordinaion demonstrated by shorter latency to fall on an accelerating rotarod
Exp Paradigm: Accelerating rotarod test
|
Accelerating rotarod test |
19 weeks |
| |
|
Description: Abnormal muscle coordinaion demonstrated by shorter latency to fall on an accelerating rotarod
Exp Paradigm: Accelerating rotarod test |
|
|
| Motor phenotype |
Self grooming: home cage/familiar environment1 |
Increased
Description: Increased self grooming behavior leading to fur loss and epidermal lesions
Exp Paradigm: General observations
|
General observations |
Unreported |
| |
|
Description: Increased self grooming behavior leading to fur loss and epidermal lesions
Exp Paradigm: General observations |
|
|
| Neurophysiology |
Synaptic transmission1 |
Decreased
Description: Decreased amplitude and charge of mipscs in layer 2/3 pyramidal neurons of the somatosensory cortex
Exp Paradigm: NA
|
Whole-cell patch clamp |
Unreported |
| |
|
Description: Decreased amplitude and charge of mipscs in layer 2/3 pyramidal neurons of the somatosensory cortex
Exp Paradigm: NA |
|
|
| Neurophysiology |
Synaptic plasticity: hippocampal ltp1 |
Decreased
Description: Decreased long-term potentiation (ltp) induced by theta-burst stimulation of schaffer collateral synapses
Exp Paradigm: NA
|
Long term potentiation (ltp) |
Unreported |
| |
|
Description: Decreased long-term potentiation (ltp) induced by theta-burst stimulation of schaffer collateral synapses
Exp Paradigm: NA |
|
|
| Neurophysiology |
Neurotransmitter release1 |
Decreased
Description: Decreased gaba content in layer 2/3 cortical neurons and striatal medium spiny neurons
Exp Paradigm: Somatic gaba content
|
Immunohistochemistry |
15-17 weeks |
| |
|
Description: Decreased gaba content in layer 2/3 cortical neurons and striatal medium spiny neurons
Exp Paradigm: Somatic gaba content |
|
|
| Repetitive behavior |
Stereotypy1 |
Increased
Description: Increased forelimb stereotypies reminiscent of mid-line hand wringing
Exp Paradigm: General observations
|
General observations |
Unreported |
| |
|
Description: Increased forelimb stereotypies reminiscent of mid-line hand wringing
Exp Paradigm: General observations |
|
|
| Repetitive behavior |
Head bobbing1 |
Increased
Description: Increased head bobbing stereotypy
Exp Paradigm: Holeboard assay
|
Hole-board test |
Unreported |
| |
|
Description: Increased head bobbing stereotypy
Exp Paradigm: Holeboard assay |
|
|
| Seizure |
Seizures1 |
Abnormal
Description: Abnormal seizure activity demonstrating frequenct hyperexcitability discharges with no electrographic seizures
Exp Paradigm: Eeg recordings
|
Electroencephalogram (eeg) |
9 weeks |
| |
|
Description: Abnormal seizure activity demonstrating frequenct hyperexcitability discharges with no electrographic seizures
Exp Paradigm: Eeg recordings |
|
|
| Sensory |
Startle response: acoustic stimulus1 |
Decreased
Description: Decreased startle response: acoustic stimulus response to 120 db
Exp Paradigm: Response to 120 db white noise stimulus
|
Startle response test |
8 weeks |
| |
|
Description: Decreased startle response: acoustic stimulus response to 120 db
Exp Paradigm: Response to 120 db white noise stimulus |
|
|
| Sensory |
Sensorimotor gating1 |
Increased
Description: Increased prepulse inhibition at 78 and 82 db prepulses demonstrating dysfunction of sensorimotor gating
Exp Paradigm: Prepulse inhibtion of the startle response: acoustic stimulus
|
Prepulse inhibition |
8 weeks |
| |
|
Description: Increased prepulse inhibition at 78 and 82 db prepulses demonstrating dysfunction of sensorimotor gating
Exp Paradigm: Prepulse inhibtion of the startle response: acoustic stimulus |
|
|
| Social behavior |
Social interaction1 |
Increased
Description: Increased interaction with partner mouse through sniffing, pawing, or rearing
Exp Paradigm: Partition test for social interest
|
Partition test |
12-13 weeks |
| |
|
Description: Increased interaction with partner mouse through sniffing, pawing, or rearing
Exp Paradigm: Partition test for social interest |
|
|
| Social behavior |
Nest building behavior1 |
Decreased
Description: Decreased nest building ability
Exp Paradigm: General observations
|
General observations |
13 weeks |
| |
|
Description: Decreased nest building ability
Exp Paradigm: General observations |
|
|
| Developmental profile |
Mortality/lethality1 |
Increased
Description: Increased lethality after a period of marked weight loss and severe respiratory dysfunction
Exp Paradigm: Survival analysis
|
Survival analysis |
6.5 months |
| |
|
Description: Increased lethality after a period of marked weight loss and severe respiratory dysfunction
Exp Paradigm: Survival analysis |
|
|
| Learning & memory |
Olfactory learning and memory1 |
Increased
Description: Increased time sniffing vanilla than controls
Exp Paradigm: NA
|
Olfactory habituation-dishabituation test |
Unreported |
| |
|
Description: Increased time sniffing vanilla than controls
Exp Paradigm: NA |
|
|
| Learning & memory |
Spatial reference memory1 |
Decreased
Description: Decreased spatial reference memory demonstrated by difficulty locating the platform
Exp Paradigm: Morris water maze task
|
Morris water maze test |
11 weeks |
| |
|
Description: Decreased spatial reference memory demonstrated by difficulty locating the platform
Exp Paradigm: Morris water maze task |
|
|
| Molecular profile |
Gene expression1 |
Decreased
Description: Decreased mrna levels of gad1 and gad 2 in cortex and striatum
Exp Paradigm: Gad1 and gad2 mrna levels
|
Quantitative pcr (qrt-pcr) |
Unreported |
| |
|
Description: Decreased mrna levels of gad1 and gad 2 in cortex and striatum
Exp Paradigm: Gad1 and gad2 mrna levels |
|
|
| Emotion |
Anxiety1 |
No change |
Open field test |
Unreported |
| Neurophysiology |
Presynaptic function: paired-pulse facilitation1 |
No change |
Paired-pulse ratio |
Unreported |
| Social behavior |
Social approach1 |
No change |
Three-chamber social approach test |
11-12 weeks |
| Social behavior |
Social scent marking or recognition1 |
No change |
Olfactory habituation-dishabituation test |
Unreported |
|
| Not Reported: |
Circadian sleep/wake cycle, Communications, Immune response, Maternal behavior, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, |
