| Phenotypic Profile |
| Category |
Entity |
Quantity |
Experimental Paradigm |
Age at Testing |
| Motor phenotype |
General locomotor activity: Ambulatory activity5 |
Decreased
Description: Decreased total distance travelled
|
Open field test |
25 weeks |
| |
|
Description: Decreased total distance travelled
|
|
|
| Motor phenotype |
Limb posture1 |
Abnormal
Description: Abnormal limb postures; hindlimb clasping
Exp Paradigm: Tail suspension test
|
Tail suspension test |
> 3 months |
| |
|
Description: Abnormal limb postures; hindlimb clasping
Exp Paradigm: Tail suspension test |
|
|
| Motor phenotype |
General locomotor activity1 |
Decreased
Description: Decreased locomotor activity demonstrated by less squares visited and increased time spent being immobile
Exp Paradigm: Open field test
|
Open field test |
Unreported |
| |
|
Description: Decreased locomotor activity demonstrated by less squares visited and increased time spent being immobile
Exp Paradigm: Open field test |
|
|
| Motor phenotype |
Hypoactivity3 |
Increased
Description: Increased hypoactivity measured as early onset of hypoactivity
Exp Paradigm: General observations in separate cage
|
General observations |
0-10 months |
| |
|
Description: Increased hypoactivity measured as early onset of hypoactivity
Exp Paradigm: General observations in separate cage |
|
|
| Motor phenotype |
Clasping reflex3 |
Increased
Description: Increased hindlimb clasping as observed at as early as 16 weeks old mice (100% hindlimb clasping by 35 weeks old)
Exp Paradigm: General observations in separate cage
|
General observations |
0-7 weeks |
| |
|
Description: Increased hindlimb clasping as observed at as early as 16 weeks old mice (100% hindlimb clasping by 35 weeks old)
Exp Paradigm: General observations in separate cage |
|
|
| Motor phenotype |
Tremor3 |
Increased
Description: Increased tremor indicated by earlier onset (20 weeks old in avarage)
Exp Paradigm: General observations in separate cage
|
General observations |
0-10 months |
| |
|
Description: Increased tremor indicated by earlier onset (20 weeks old in avarage)
Exp Paradigm: General observations in separate cage |
|
|
| Motor phenotype |
Grip strength5 |
Decreased
Description: Increase in foot slips
|
Wire hang test |
24 weeks |
| Motor phenotype |
Motor coordination and balance5 |
Decreased
Description: Decreased latency to fall off the rotarod, increased foot slips
|
Accelerating rotarod test |
8-32 weeks |
| |
|
Description: Decreased latency to fall off the rotarod, increased foot slips
|
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Dendritic architecture: spine density5 |
Decreased
Description: Decreased spine density
|
Immunofluorescence staining |
24 weeks |
| |
|
Description: Decreased spine density
|
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Dendritic architecture: dendritic tree complexity5 |
Decreased
Description: Decreased dendritic complexity
|
Immunofluorescence staining |
24 weeks |
| |
|
Description: Decreased dendritic complexity
|
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Neuronal morphology5 |
Decreased
Description: Decreased soma and nuclear area
|
Immunofluorescence staining |
24 weeks |
| |
|
Description: Decreased soma and nuclear area
|
|
|
| Neurophysiology |
Spontaneous post synaptic event amplitude: excitatory currents5 |
Decreased
Description: Presymptomatic training improved the frequencies of sipscs and sepscs of mecp2 negative neurons in rett mice (fig. 4f, h), but not the amplitudes (fig. 4g, i).
|
Whole-cell patch clamp |
13 weeks |
| |
|
Description: Presymptomatic training improved the frequencies of sipscs and sepscs of mecp2 negative neurons in rett mice (fig. 4f, h), but not the amplitudes (fig. 4g, i).
|
|
|
| Neurophysiology |
Event related potential (erp) in electroencephalography (eeg)4 |
Abnormal
Description: Abnormal auditory erp frequency analysis indicated by increased phase locking in gamma range
Exp Paradigm: Spectral decomposition of auditory-evoked response waveforms
|
Event related potential (erp) |
4-5 months |
| |
|
Description: Abnormal auditory erp frequency analysis indicated by increased phase locking in gamma range
Exp Paradigm: Spectral decomposition of auditory-evoked response waveforms |
|
|
| Neurophysiology |
Spontaneous post synaptic event frequency: inhibitory currents5 |
Decreased
Description: Presymptomatic training improved the frequencies of sipscs and sepscs of mecp2 negative neurons in rett mice (fig. 4f, h), but not the amplitudes (fig. 4g, i).
|
Whole-cell patch clamp |
13 weeks |
| |
|
Description: Presymptomatic training improved the frequencies of sipscs and sepscs of mecp2 negative neurons in rett mice (fig. 4f, h), but not the amplitudes (fig. 4g, i).
|
|
|
| Neurophysiology |
Neuronal activation following behavioral stimulation5 |
Decreased
Description: Decreased fos positive neurons
Exp Paradigm: used cFos-targeted recombination in active populations (Fos-TRAP) to label task-specific neurons activated during water-maze
|
Immunofluorescence staining |
24 weeks |
| |
|
Description: Decreased fos positive neurons
Exp Paradigm: used cFos-targeted recombination in active populations (Fos-TRAP) to label task-specific neurons activated during water-maze |
|
|
| Neurophysiology |
Event related potential (erp) in electroencephalography (eeg)4 |
Abnormal
Description: Abnormal auditory erp frequency analysis indicated by increase in induced gamma power around 45 hz, increase in beta-band activity, no change in theta and delta-band component
Exp Paradigm: Spectral decomposition of auditory-evoked response waveforms
|
Event related potential (erp) |
4-5 months |
| |
|
Description: Abnormal auditory erp frequency analysis indicated by increase in induced gamma power around 45 hz, increase in beta-band activity, no change in theta and delta-band component
Exp Paradigm: Spectral decomposition of auditory-evoked response waveforms |
|
|
| Neurophysiology |
Spontaneous post synaptic event frequency: excitatory currents5 |
Decreased
Description: Presymptomatic training improved the frequencies of sipscs and sepscs of mecp2 negative neurons in rett mice (fig. 4f, h), but not the amplitudes (fig. 4g, i).
|
Whole-cell patch clamp |
13 weeks |
| |
|
Description: Presymptomatic training improved the frequencies of sipscs and sepscs of mecp2 negative neurons in rett mice (fig. 4f, h), but not the amplitudes (fig. 4g, i).
|
|
|
| Neurophysiology |
Event related potential (erp) in electroencephalography (eeg)4 |
Abnormal
Description: Abnormal visual erp indicated by increased n1 component in response to visual stimuli; no change in p2 wave latency
Exp Paradigm: Eeg recordings after delivery of visual stimuli
|
Electroencephalogram (eeg) |
4-5 months |
| |
|
Description: Abnormal visual erp indicated by increased n1 component in response to visual stimuli; no change in p2 wave latency
Exp Paradigm: Eeg recordings after delivery of visual stimuli |
|
|
| Neurophysiology |
Spontaneous post synaptic event amplitude: inhibitory currents5 |
Decreased
Description: Presymptomatic training improved the frequencies of sipscs and sepscs of mecp2 negative neurons in rett mice (fig. 4f, h), but not the amplitudes (fig. 4g, i).
|
Whole-cell patch clamp |
13 weeks |
| |
|
Description: Presymptomatic training improved the frequencies of sipscs and sepscs of mecp2 negative neurons in rett mice (fig. 4f, h), but not the amplitudes (fig. 4g, i).
|
|
|
| Neurophysiology |
Event related potential (erp) in electroencephalography (eeg)4 |
Abnormal
Description: Abnormal middle and late components indicated by larger n1 component, no change in p2 amplitude but delayed latency
Exp Paradigm: Eeg recordings after delivery of auditory stimuli
|
Electroencephalogram (eeg) |
4-5 months |
| |
|
Description: Abnormal middle and late components indicated by larger n1 component, no change in p2 amplitude but delayed latency
Exp Paradigm: Eeg recordings after delivery of auditory stimuli |
|
|
| Sensory |
Startle response: acoustic stimulus5 |
Decreased
Description: Decreased startle amplitude
|
Acoustic startle reflex test |
24 weeks |
| |
|
Description: Decreased startle amplitude
|
|
|
| Physiological parameters |
Hormone levels4 |
Decreased
Description: Abnormal bdnf protein quantification demonstrated by no change in concentration in cortex; decreased levels in striatum
Exp Paradigm: Quantification using elisa at site of translation and target site
|
Elisa |
7.5 weeks |
| |
|
Description: Abnormal bdnf protein quantification demonstrated by no change in concentration in cortex; decreased levels in striatum
Exp Paradigm: Quantification using elisa at site of translation and target site |
|
|
| Developmental profile |
Developmental trajectory1 |
Abnormal
Description: Abnormal developmental trajectory: irregular breathing
Exp Paradigm: General observations
|
General observations |
9 months |
| |
|
Description: Abnormal developmental trajectory: irregular breathing
Exp Paradigm: General observations |
|
|
| Emotion |
Anxiety5 |
Decreased
Description: More time spent in open arms
|
Elevated plus maze test |
24 weeks |
| |
|
Description: More time spent in open arms
|
|
|
| Learning & memory |
Spatial working memory5 |
Decreased
Description: Increased latency for memory acquisition
|
Morris water maze test |
24 weeks |
| |
|
Description: Increased latency for memory acquisition
|
|
|
| Learning & memory |
Spatial reference memory5 |
Decreased
Description: Decreased time in target quadrant in probe trial
|
Morris water maze test |
24 weeks |
| |
|
Description: Decreased time in target quadrant in probe trial
|
|
|
| Learning & memory |
Cued or contextual fear conditioning: Memory of context5 |
Decreased
Description: Decreased time spent freezing
|
Fear conditioning test |
24 weeks |
| |
|
Description: Decreased time spent freezing
|
|
|
| Molecular profile |
Gene expression2 |
Decreased
Description: Decreased tyrosine hydroxylase (th) mrna expression in pons
Exp Paradigm: Th mrna expression
|
Quantitative pcr (qrt-pcr) |
10-12 months |
| |
|
Description: Decreased tyrosine hydroxylase (th) mrna expression in pons
Exp Paradigm: Th mrna expression |
|
|
| Molecular profile |
Protein expression level evidence4 |
Decreased
Description: Decreased htt protein levels in hypothalamus, and hippocampus
Exp Paradigm: Htt protein levels
|
Immunohistochemistry |
8 weeks |
| |
|
Description: Decreased htt protein levels in hypothalamus, and hippocampus
Exp Paradigm: Htt protein levels |
|
|
| Molecular profile |
Protein expression level evidence4 |
Decreased
Description: Decreased hap1 protein levels in hypothalamus, nucleus tractus solitarius, midbrain ventral area, locus coeruleus, and pons
Exp Paradigm: Hap1 protein levels
|
Immunohistochemistry |
8 weeks |
| |
|
Description: Decreased hap1 protein levels in hypothalamus, nucleus tractus solitarius, midbrain ventral area, locus coeruleus, and pons
Exp Paradigm: Hap1 protein levels |
|
|
| Molecular profile |
Gene expression3 |
Increased
Description: Increased expression of genes fkbp5 and sgk1 in brain
Exp Paradigm: Fkbp5 and sgk1 gene expression
|
Quantitative pcr (qrt-pcr) |
5 weeks |
| |
|
Description: Increased expression of genes fkbp5 and sgk1 in brain
Exp Paradigm: Fkbp5 and sgk1 gene expression |
|
|
| Molecular profile |
Protein expression level evidence4 |
Decreased
Description: Decreased levels of hap1a and hap1b isoforms in midbrain ventral area, reduced hap1a isoform in cortex, no hap1b isoform in cortex
Exp Paradigm: Hap1 protein levels
|
Western blot |
8 weeks |
| |
|
Description: Decreased levels of hap1a and hap1b isoforms in midbrain ventral area, reduced hap1a isoform in cortex, no hap1b isoform in cortex
Exp Paradigm: Hap1 protein levels |
|
|
| Developmental profile |
Mortality/lethality3 |
No change |
General observations |
5.5 months |
| Developmental profile |
Size/growth5 |
No change |
Body weight measurement |
Adult |
| Emotion |
Anxiety1 |
No change |
Open field test |
Unreported |
| Learning & memory |
Cued or contextual fear conditioning: Memory of cue5 |
No change |
Fear conditioning test |
24 weeks |
| Molecular profile |
Gene expression4 |
No change |
Western blot |
Unreported |
| Molecular profile |
Gene expression4 |
No change |
Quantitative pcr (qrt-pcr) |
Unreported |
| Molecular profile |
Protein expression level evidence2 |
No change |
Immunohistochemistry |
Unreported |
| Motor phenotype |
Swimming ability5 |
No change |
Morris water maze test |
Adult |
| Neurophysiology |
Event related potential (erp) in electroencephalography (eeg)4 |
No change |
Electroencephalogram (eeg) |
4-5 months |
| Sensory |
Startle response: acoustic stimulus5 |
No change |
Prepulse inhibition |
24 weeks |
| Social behavior |
Social approach5 |
No change |
Three-chamber social approach test |
24 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, |
