| Phenotypic Profile |
| Category |
Entity |
Quantity |
Experimental Paradigm |
Age at Testing |
| Motor phenotype |
General locomotor activity3 |
Decreased
Description: Decreased general locomotor activity as shown by progressive impairement in total distance moved and velocity
Exp Paradigm: Open field test
|
Open field test |
Unreported |
| |
|
Description: Decreased general locomotor activity as shown by progressive impairement in total distance moved and velocity
Exp Paradigm: Open field test |
|
|
| Motor phenotype |
Motor coordination and balance4 |
Decreased
Description: Decreased motor coordination indicated by decreased latency to fall in rotarod test performance
Exp Paradigm: Rotarod test
|
Accelerating rotarod test |
6-8 weeks |
| |
|
Description: Decreased motor coordination indicated by decreased latency to fall in rotarod test performance
Exp Paradigm: Rotarod test |
|
|
| Motor phenotype |
General locomotor activity4 |
Decreased
Description: Decreased general locomotor activity as indicated by decreased travelled distance
Exp Paradigm: Open field test
|
Open field test |
6-8 weeks |
| |
|
Description: Decreased general locomotor activity as indicated by decreased travelled distance
Exp Paradigm: Open field test |
|
|
| Motor phenotype |
Motor coordination and balance2 |
Decreased
Description: Decreased motor coordination and motor learning
Exp Paradigm: Rotarod test
|
Accelerating rotarod test |
Unreported |
| |
|
Description: Decreased motor coordination and motor learning
Exp Paradigm: Rotarod test |
|
|
| Motor phenotype |
Clasping reflex4 |
Increased
Description: Increased hindlimb clasping as observed at as early as 4 weeks old mice (100% hindlimb clasping by 8 weeks old)
Exp Paradigm: General observations in separate cage
|
General observations |
0-14 weeks |
| |
|
Description: Increased hindlimb clasping as observed at as early as 4 weeks old mice (100% hindlimb clasping by 8 weeks old)
Exp Paradigm: General observations in separate cage |
|
|
| Motor phenotype |
General locomotor activity2 |
Decreased
Description: Decreased locomotor activity
Exp Paradigm: Open field test
|
Open field test |
9 weeks |
| |
|
Description: Decreased locomotor activity
Exp Paradigm: Open field test |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology1 |
Increased
Description: Increased neuronal density in layers ii/iii and v of the somatosensory and motor cortices
Exp Paradigm: Morphometric analysis with a dxm-1220f system of coronal sections
|
Histology |
4-6 weeks |
| |
|
Description: Increased neuronal density in layers ii/iii and v of the somatosensory and motor cortices
Exp Paradigm: Morphometric analysis with a dxm-1220f system of coronal sections |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology1 |
Decreased
Description: Decreased number of parvalbumin (pv)-positive cells in cortex
Exp Paradigm: Parvalbumin (pv) immunohistochemistry in somatosensory cortex
|
Immunohistochemistry |
Unreported |
| |
|
Description: Decreased number of parvalbumin (pv)-positive cells in cortex
Exp Paradigm: Parvalbumin (pv) immunohistochemistry in somatosensory cortex |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Synaptic morphology1 |
Decreased
Description: Decreased synaptic maturation in layers ii/iii of somatosensory cortex
Exp Paradigm: Electron microscopy analysis
|
Electron microscopy |
P14 |
| |
|
Description: Decreased synaptic maturation in layers ii/iii of somatosensory cortex
Exp Paradigm: Electron microscopy analysis |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology1 |
Decreased
Description: Decreased neuronal size of pyramidal cells in layers ii/iii and v of the somatosensory and motor cortices
Exp Paradigm: Morphometric analysis with a dxm-1220f system of coronal sections
|
Histology |
6 weeks |
| |
|
Description: Decreased neuronal size of pyramidal cells in layers ii/iii and v of the somatosensory and motor cortices
Exp Paradigm: Morphometric analysis with a dxm-1220f system of coronal sections |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Dendritic architecture: spine density1 |
Decreased
Description: Decreased diameter of apical dendrites in pyramidal neurons; decreased number of dendritic spines; decreased arborization
Exp Paradigm: Golgi-impregnated cortical sections
|
Golgi-cox staining |
2-6 weeks |
| |
|
Description: Decreased diameter of apical dendrites in pyramidal neurons; decreased number of dendritic spines; decreased arborization
Exp Paradigm: Golgi-impregnated cortical sections |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology1 |
Decreased
Description: Decreased cortical thickness in layers ii/iii of somatosensory cortex
Exp Paradigm: Morphometric analysis with a dxm-1220f system of coronal sections
|
Histology |
6 weeks |
| |
|
Description: Decreased cortical thickness in layers ii/iii of somatosensory cortex
Exp Paradigm: Morphometric analysis with a dxm-1220f system of coronal sections |
|
|
| Neurophysiology |
Event related potential (erp) in electroencephalography (eeg)2 |
Abnormal
Description: Abnormal eeg recordings indicated by increased power of high-gamma frequency oscillations
Exp Paradigm: Eeg recordings in awake, freely mobile
|
Electroencephalogram (eeg) |
3 months |
| |
|
Description: Abnormal eeg recordings indicated by increased power of high-gamma frequency oscillations
Exp Paradigm: Eeg recordings in awake, freely mobile |
|
|
| Neurophysiology |
Event related potential (erp) in electroencephalography (eeg)2 |
Increased
Description: Increased latency of initial positive peak, negative peak and a subsequent second positive peak
Exp Paradigm: Eeg recordings following presentatino of a series of white noise clicks
|
Electroencephalogram (eeg) |
3 months |
| |
|
Description: Increased latency of initial positive peak, negative peak and a subsequent second positive peak
Exp Paradigm: Eeg recordings following presentatino of a series of white noise clicks |
|
|
| Neurophysiology |
Event related potential (erp) in electroencephalography (eeg)2 |
Decreased
Description: Decreased event-related power in both low and high frequency oscillations
Exp Paradigm: Time frequency analysis on eeg recordings
|
Electroencephalogram (eeg) |
3 months |
| |
|
Description: Decreased event-related power in both low and high frequency oscillations
Exp Paradigm: Time frequency analysis on eeg recordings |
|
|
| Developmental profile |
Mortality/lethality4 |
Increased
Description: Decreased lifespan (no mice survive at 140 days old)
Exp Paradigm: General observations
|
General observations |
0-4.5 months |
| |
|
Description: Decreased lifespan (no mice survive at 140 days old)
Exp Paradigm: General observations |
|
|
| Developmental profile |
Mortality/lethality3 |
Increased
Description: Decreased life span
Exp Paradigm: General observations
|
General observations |
Unreported |
| |
|
Description: Decreased life span
Exp Paradigm: General observations |
|
|
| Emotion |
Anxiety2 |
Decreased
Description: Decreased anxiety indicated by more time spent in open vs. closed arm
Exp Paradigm: Elevated zero maze test
|
Elevated zero maze test |
9 weeks |
| |
|
Description: Decreased anxiety indicated by more time spent in open vs. closed arm
Exp Paradigm: Elevated zero maze test |
|
|
| Learning & memory |
Cued or contextual fear conditioning2 |
Decreased
Description: Decreased learning and memory indicated by decreased context-dependent and cue-dependent freezing
Exp Paradigm: Contextual and cued fear-conditioning procedure
|
Fear conditioning test |
10 weeks |
| |
|
Description: Decreased learning and memory indicated by decreased context-dependent and cue-dependent freezing
Exp Paradigm: Contextual and cued fear-conditioning procedure |
|
|
| Molecular profile |
Gene expression3 |
Decreased
Description: Decreased expression of hap1 and htt in the medulla oblongata, pons, and rostral brain
Exp Paradigm: Hap1/htt mrna expression
|
Quantitative pcr (qrt-pcr) |
8 weeks |
| |
|
Description: Decreased expression of hap1 and htt in the medulla oblongata, pons, and rostral brain
Exp Paradigm: Hap1/htt mrna expression |
|
|
| Molecular profile |
Gene expression3 |
Decreased
Description: Decreased sgk1 mrna expression in medulla oblongata
Exp Paradigm: Sgk1 mrna expression
|
Quantitative pcr (qrt-pcr) |
8 weeks |
| |
|
Description: Decreased sgk1 mrna expression in medulla oblongata
Exp Paradigm: Sgk1 mrna expression |
|
|
| Molecular profile |
Gene expression3 |
Decreased
Description: Decreased bdnf mrna expression in medulla oblongata, pons, and rostral brain
Exp Paradigm: Bdnf mrna expression
|
Quantitative pcr (qrt-pcr) |
8 weeks |
| |
|
Description: Decreased bdnf mrna expression in medulla oblongata, pons, and rostral brain
Exp Paradigm: Bdnf mrna expression |
|
|
| Molecular profile |
Gene expression3 |
Decreased
Description: Decreased hap1 mrna expression in medulla oblongata
Exp Paradigm: Hap1 mrna expression
|
Quantitative pcr (qrt-pcr) |
8 weeks |
| |
|
Description: Decreased hap1 mrna expression in medulla oblongata
Exp Paradigm: Hap1 mrna expression |
|
|
| Molecular profile |
Gene expression3 |
Abnormal
Description: Decreased expression of hap1 and sgk1; increased expressionof itpr1 in medulla oblongata
Exp Paradigm: Dna microarray
|
Gene expression microarray |
8 weeks |
| |
|
Description: Decreased expression of hap1 and sgk1; increased expressionof itpr1 in medulla oblongata
Exp Paradigm: Dna microarray |
|
|
| Molecular profile |
Signaling3 |
Decreased
Description: Decreased mrna expression of htt, hap1, dctn2, dync1h1, ahi in rostral brain regions
Exp Paradigm: Bdnf neuronal trafficking genes expression
|
Quantitative pcr (qrt-pcr) |
8 weeks |
| |
|
Description: Decreased mrna expression of htt, hap1, dctn2, dync1h1, ahi in rostral brain regions
Exp Paradigm: Bdnf neuronal trafficking genes expression |
|
|
| Molecular profile |
Gene expression3 |
No change |
Quantitative pcr (qrt-pcr) |
7.5 weeks |
| Molecular profile |
Gene expression3 |
No change |
Quantitative pcr (qrt-pcr) |
4 weeks |
| Molecular profile |
Gene expression3 |
No change |
Quantitative pcr (qrt-pcr) |
4 weeks |
| Neurophysiology |
Neurotransmitter release: neurotrophins3 |
No change |
Quantitative pcr (qrt-pcr) |
7.5 weeks |
| Sensory |
Hearing2 |
No change |
Auditory brainstem response test |
4-12 weeks |
|
| 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, |
