| Phenotypic Profile |
| Category |
Entity |
Quantity |
Experimental Paradigm |
Age at Testing |
| Motor phenotype |
Limb posture1 |
Abnormal
Description: Abnormal limb postures; hindlimb clasping
Exp Paradigm: NA
|
General observations |
Unreported |
| |
|
Description: Abnormal limb postures; hindlimb clasping
Exp Paradigm: NA |
|
|
| Motor phenotype |
Gait6 |
Abnormal
Description: Mecp2-null mutant mice showed an increase in phenotypic severity scores compared to wt controls.
Exp Paradigm: NA
|
General observations |
4-28 weeks |
| |
|
Description: Mecp2-null mutant mice showed an increase in phenotypic severity scores compared to wt controls.
Exp Paradigm: NA |
|
|
| Motor phenotype |
Tremor6 |
Abnormal
Description: Mecp2-null mutant mice showed an increase in phenotypic severity scores compared to wt controls.
Exp Paradigm: NA
|
General observations |
4-28 weeks |
| |
|
Description: Mecp2-null mutant mice showed an increase in phenotypic severity scores compared to wt controls.
Exp Paradigm: NA |
|
|
| Motor phenotype |
General locomotor activity: ambulatory activity7 |
Decreased
Description: Mecp2 hemizygous mice show a decrease in distance traveled in the open field test.
|
Open field test |
6-8 weeks |
| |
|
Description: Mecp2 hemizygous mice show a decrease in distance traveled in the open field test.
|
|
|
| Motor phenotype |
Gait1 |
Abnormal
Description: Abnormal stiff, uncoordinated gait
Exp Paradigm: General observations
|
General observations |
3-8 weeks |
| |
|
Description: Abnormal stiff, uncoordinated gait
Exp Paradigm: General observations |
|
|
| Motor phenotype |
Spontaneous movement1 |
Decreased
Description: Decreased spontaneous movement
Exp Paradigm: Open field test
|
Open field test |
3-8 weeks |
| |
|
Description: Decreased spontaneous movement
Exp Paradigm: Open field test |
|
|
| Motor phenotype |
General locomotor activity6 |
Abnormal
Description: Mecp2-null mutant mice showed an increase in phenotypic severity scores compared to wt controls.
Exp Paradigm: NA
|
General observations |
4-28 weeks |
| |
|
Description: Mecp2-null mutant mice showed an increase in phenotypic severity scores compared to wt controls.
Exp Paradigm: NA |
|
|
| Motor phenotype |
Limb posture6 |
Abnormal
Description: Mecp2-null mutant mice showed an increase in phenotypic severity scores compared to wt controls.
Exp Paradigm: NA
|
General observations |
4-28 weeks |
| |
|
Description: Mecp2-null mutant mice showed an increase in phenotypic severity scores compared to wt controls.
Exp Paradigm: NA |
|
|
| Motor phenotype |
General locomotor activity5 |
Decreased
Description: Mecp2 kos have reduced distance traveled in the open field test
Exp Paradigm: NA
|
Open field test |
6-8 weeks |
| |
|
Description: Mecp2 kos have reduced distance traveled in the open field test
Exp Paradigm: NA |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Synaptic neuroreceptors5 |
Decreased
Description: Mecp2 kos have reduced expression of gabrb3 in puncta that also express vglut1 in the spinal cord dorsal horn lamina iii
Exp Paradigm: NA
|
Immunohistochemistry |
3-6 months |
| |
|
Description: Mecp2 kos have reduced expression of gabrb3 in puncta that also express vglut1 in the spinal cord dorsal horn lamina iii
Exp Paradigm: NA |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain morphology3 |
Decreased
Description: Decreased cortical thickness in motor-frontal cortex
Exp Paradigm: Bright-field video micrograph analysis of slices of s1 cortex
|
Photomicrographic analysis |
3-4 weeks |
| |
|
Description: Decreased cortical thickness in motor-frontal cortex
Exp Paradigm: Bright-field video micrograph analysis of slices of s1 cortex |
|
|
| Neuroanatomy / Ultrastructure / Cytoarchitecture |
Brain cytoarchitecture2 |
Decreased
Description: Decreased number of th positive neurons in the locus coerulues (lc)
Exp Paradigm: Immunostaining analysis of the lc using both antibodies for th and mecp1
|
Immunohistochemistry |
7 weeks |
| |
|
Description: Decreased number of th positive neurons in the locus coerulues (lc)
Exp Paradigm: Immunostaining analysis of the lc using both antibodies for th and mecp1 |
|
|
| Neurophysiology |
Synaptic transmission: excitatory3 |
Decreased
Description: Decreased ascending excitatory input at the l3/5a pyramidal neuron zone
Exp Paradigm: Patch clamp recording of the l3/5a pyramidal neuron the area around which is photostimulated by focal glutamate uncaging
|
Whole-cell patch clamp |
3-4 weeks |
| |
|
Description: Decreased ascending excitatory input at the l3/5a pyramidal neuron zone
Exp Paradigm: Patch clamp recording of the l3/5a pyramidal neuron the area around which is photostimulated by focal glutamate uncaging |
|
|
| Neurophysiology |
Synaptic transmission: excitatory3 |
Decreased
Description: There is decreased local excitatory input to l2/3 pyramidal neurons
Exp Paradigm: Loose-seal recordings from synapse l2/3 of pyramidal neurons
|
Laser scanning photostimulation |
Unreported |
| |
|
Description: There is decreased local excitatory input to l2/3 pyramidal neurons
Exp Paradigm: Loose-seal recordings from synapse l2/3 of pyramidal neurons |
|
|
| Neurophysiology |
Synaptic transmission: excitatory3 |
Decreased
Description: Decreased intensity of excitation profile of l3/5a pyramidal neurons
Exp Paradigm: Loose-seal recordings from synapse l3/5a of pyramidal neurons
|
Laser scanning photostimulation |
Unreported |
| |
|
Description: Decreased intensity of excitation profile of l3/5a pyramidal neurons
Exp Paradigm: Loose-seal recordings from synapse l3/5a of pyramidal neurons |
|
|
| Sensory |
Sensorimotor gating: tactile cue7 |
Decreased
Description: Mecp2 hemizygous mice exhibit enhanced sensitivity to back hairy skin stimulation, as measured by tactile prepulse inhibition (PPI) of an acoustic startle response.
Exp Paradigm: 0.9-psi air puff preceded 120 dB acoustic startle pulse,delivered at variable interstimulus intervals
|
Prepulse inhibition |
6-8 weeks |
| |
|
Description: Mecp2 hemizygous mice exhibit enhanced sensitivity to back hairy skin stimulation, as measured by tactile prepulse inhibition (PPI) of an acoustic startle response.
Exp Paradigm: 0.9-psi air puff preceded 120 dB acoustic startle pulse,delivered at variable interstimulus intervals |
|
|
| Sensory |
Startle response: acoustic stimulus5 |
Decreased
Description: Mecp2 kos have reduced startle reflex to 125 db noise
Exp Paradigm: NA
|
Startle response test |
6-8 weeks |
| |
|
Description: Mecp2 kos have reduced startle reflex to 125 db noise
Exp Paradigm: NA |
|
|
| Sensory |
Sensorimotor gating5 |
Decreased
Description: Mecp2 kos have enhanced response even in acoustic prepulse inhibition compared to controls and unlike shank3 het and fmr1 hemizygous mice tested by orefice et al
Exp Paradigm: NA
|
Prepulse inhibition |
6-8 weeks |
| |
|
Description: Mecp2 kos have enhanced response even in acoustic prepulse inhibition compared to controls and unlike shank3 het and fmr1 hemizygous mice tested by orefice et al
Exp Paradigm: NA |
|
|
| Sensory |
Touch5 |
Increased
Description: Mecp2 kos show an increased response to just air puff indicating aberrant sensitivity or hypersensitivity
Exp Paradigm: NA
|
Response to air puff |
6-8 weeks |
| |
|
Description: Mecp2 kos show an increased response to just air puff indicating aberrant sensitivity or hypersensitivity
Exp Paradigm: NA |
|
|
| Sensory |
Sensory-evoked response: excitation: auditory stimulus4 |
Increased
Description: Mecp2 ko mice show significantly increased area of activation in the insular cortex, in response to auditory cues, similar to btbr mice
Exp Paradigm: NA
|
Measurement of area of activation (roi) in the insular cortex |
Adult |
| |
|
Description: Mecp2 ko mice show significantly increased area of activation in the insular cortex, in response to auditory cues, similar to btbr mice
Exp Paradigm: NA |
|
|
| Sensory |
Multisensory integration: sensory neurons of insular cortex: auditory-tactile4 |
Decreased
Description: Mecp2 ko mice show significantly reduced multisensory integration in the insular cortex
Exp Paradigm: Degree of integration was determined by dividing the response amplitude upon combined stimulation by the sum of unisensory responses
|
Quantification of degree of integration |
Adult |
| |
|
Description: Mecp2 ko mice show significantly reduced multisensory integration in the insular cortex
Exp Paradigm: Degree of integration was determined by dividing the response amplitude upon combined stimulation by the sum of unisensory responses |
|
|
| Sensory |
Tactile memory5 |
Decreased
Description: Mecp2 kos have reduced glabrous skin tactile discrimination and memory for objects differing in texture (rough or smooth) and do not preferentially interact with a novel textured-object over a familiar one
Exp Paradigm: NA
|
Textured novel object recognition test (t-nort) |
6-8 weeks |
| |
|
Description: Mecp2 kos have reduced glabrous skin tactile discrimination and memory for objects differing in texture (rough or smooth) and do not preferentially interact with a novel textured-object over a familiar one
Exp Paradigm: NA |
|
|
| Sensory |
Sensorimotor gating: tactile cue5 |
Decreased
Description: Tactile prepulse inhibition responses are enhanced in mecp2 ko mice, as opposed to control littermates that display reduced magnitude of acoustic startle response when they receive an air puff prepulse
Exp Paradigm: NA
|
Prepulse inhibition |
6-8 weeks |
| |
|
Description: Tactile prepulse inhibition responses are enhanced in mecp2 ko mice, as opposed to control littermates that display reduced magnitude of acoustic startle response when they receive an air puff prepulse
Exp Paradigm: NA |
|
|
| Sensory |
Hypersensitivity: tactile stimulus7 |
Increased
Description: Mecp2 hemizygous pups show greater displacement magnitude, measured by optical flow point, in response to air puff stimuli.
Exp Paradigm: optical flow point tracking to measure reactivity to single presentations of 0.10-, 0.25-, 0.50- and 0.75-psi air puff stimuli
|
Response to air puff |
P4 |
| |
|
Description: Mecp2 hemizygous pups show greater displacement magnitude, measured by optical flow point, in response to air puff stimuli.
Exp Paradigm: optical flow point tracking to measure reactivity to single presentations of 0.10-, 0.25-, 0.50- and 0.75-psi air puff stimuli |
|
|
| Sensory |
Startle response: tactile stimulus7 |
Increased
Description: Mecp2 hemizygous mice exhibit enhanced startle response to a gentle air puff stimulus alone.
|
Response to air puff |
6-8 weeks |
| |
|
Description: Mecp2 hemizygous mice exhibit enhanced startle response to a gentle air puff stimulus alone.
|
|
|
| Social behavior |
Social memory5 |
Decreased
Description: Mecp2 kos have no preference for novel stranger mouse over familiar mouse
Exp Paradigm: NA
|
Three-chamber social approach test |
6-8 weeks |
| |
|
Description: Mecp2 kos have no preference for novel stranger mouse over familiar mouse
Exp Paradigm: NA |
|
|
| Social behavior |
Nest building behavior5 |
Decreased
Description: Mecp2 kos reduced nest building score measured by weighing unshredded material
Exp Paradigm: NA
|
Nest building assay |
6-8 weeks |
| |
|
Description: Mecp2 kos reduced nest building score measured by weighing unshredded material
Exp Paradigm: NA |
|
|
| Social behavior |
Social dominance5 |
Decreased
Description: Mecp2 kos exhibit decreased dominance and aggression and lose majority of matches against control mice
Exp Paradigm: NA
|
Tube test of social dominance |
6-8 weeks |
| |
|
Description: Mecp2 kos exhibit decreased dominance and aggression and lose majority of matches against control mice
Exp Paradigm: NA |
|
|
| Social behavior |
Social approach5 |
Decreased
Description: Mecp2 kos have reduced preference for stimulus stranger mouse over object
Exp Paradigm: NA
|
Three-chamber social approach test |
6-8 weeks |
| |
|
Description: Mecp2 kos have reduced preference for stimulus stranger mouse over object
Exp Paradigm: NA |
|
|
| Social behavior |
Social approach7 |
Decreased
Description: Mecp2 hemizygous mice show no preference for novel mouse over novel object in the social approach test.
|
Three-chamber social approach test |
6-8 weeks |
| |
|
Description: Mecp2 hemizygous mice show no preference for novel mouse over novel object in the social approach test.
|
|
|
| Physiological parameters |
Respiratory function5 |
Decreased
Description: Mecp2 kos have reduced tidal volume, respiration rate and expiration volume compared to control mice
Exp Paradigm: NA
|
Whole body plethysmography |
2-2.5 months |
| |
|
Description: Mecp2 kos have reduced tidal volume, respiration rate and expiration volume compared to control mice
Exp Paradigm: NA |
|
|
| Developmental profile |
Size/growth1 |
Decreased
Description: Decreased average body weight
Exp Paradigm: General observations
|
General observations |
4 weeks |
| |
|
Description: Decreased average body weight
Exp Paradigm: General observations |
|
|
| Developmental profile |
Mortality/lethality6 |
Increased
Description: Mecpt-null mutant mice showed an increase in mortality compared to wt controls.
Exp Paradigm: NA
|
General observations |
0-30 weeks |
| |
|
Description: Mecpt-null mutant mice showed an increase in mortality compared to wt controls.
Exp Paradigm: NA |
|
|
| Developmental profile |
Mortality/lethality5 |
Increased
Description: Mecp2 ko mice have reduced lifespan
Exp Paradigm: NA
|
Survival analysis |
1-10 months |
| |
|
Description: Mecp2 ko mice have reduced lifespan
Exp Paradigm: NA |
|
|
| Developmental profile |
Size/growth5 |
Decreased
Description: Mecp2 kos have reduced body weight compared to littermate controls
Exp Paradigm: NA
|
Body weight measurement |
2-2.5 months |
| |
|
Description: Mecp2 kos have reduced body weight compared to littermate controls
Exp Paradigm: NA |
|
|
| Developmental profile |
Developmental trajectory1 |
Abnormal
Description: Abnormal developmental trajectory: irregular breathing, uneven wearing of the teeth, misaligned jaws, and internalized testes of males
Exp Paradigm: General observations
|
General observations |
Unreported |
| |
|
Description: Abnormal developmental trajectory: irregular breathing, uneven wearing of the teeth, misaligned jaws, and internalized testes of males
Exp Paradigm: General observations |
|
|
| Emotion |
Habituation to aversive stimuli5 |
Decreased
Description: Mecp2 kos have reduced habituation (eventual decrease in startle amplitude in response to series of trials) to acoustic startle
Exp Paradigm: NA
|
Startle response test |
6-8 weeks |
| |
|
Description: Mecp2 kos have reduced habituation (eventual decrease in startle amplitude in response to series of trials) to acoustic startle
Exp Paradigm: NA |
|
|
| Emotion |
Anxiety5 |
Increased
Description: Mecp2 kos have reduced time spent in the center of of and reduced preference for the open arms in the elevated plus maze test indicating increased anxiety
Exp Paradigm: Elevated plus maze test
|
Elevated plus maze test |
6-8 weeks |
| |
|
Description: Mecp2 kos have reduced time spent in the center of of and reduced preference for the open arms in the elevated plus maze test indicating increased anxiety
Exp Paradigm: Elevated plus maze test |
|
|
| Emotion |
Habituation to aversive stimuli7 |
Decreased
Description: Mecp2 hemizygous pups show greater displacement magnitude, measured by optical flow point, in response to repeated air puff stimuli. A smaller number of pups show habituation to repeated stimuli.
Exp Paradigm: optical flow point tracking to measure reactivity to ten presentations of a 1.0-psi stimulus at 20- to 30-s intervals
|
Response to air puff |
P4 |
| |
|
Description: Mecp2 hemizygous pups show greater displacement magnitude, measured by optical flow point, in response to repeated air puff stimuli. A smaller number of pups show habituation to repeated stimuli.
Exp Paradigm: optical flow point tracking to measure reactivity to ten presentations of a 1.0-psi stimulus at 20- to 30-s intervals |
|
|
| Emotion |
Anxiety7 |
Increased
Description: Mecp2 hemizygous mice show decreased time in the center of the open field arena.
|
Open field test |
6-8 weeks |
| |
|
Description: Mecp2 hemizygous mice show decreased time in the center of the open field arena.
|
|
|
| Emotion |
Exploratory activity5 |
Decreased
Description: Mecp2 kos conduct normal exploration of objects in textured nort
Exp Paradigm: NA
|
Textured novel object recognition test (t-nort) |
6-8 weeks |
| |
|
Description: Mecp2 kos conduct normal exploration of objects in textured nort
Exp Paradigm: NA |
|
|
| Emotion |
Anxiety5 |
Increased
Description: Mecp2 kos have reduced time spent in the center of of and reduced preference for the open arms in the elevated plus maze test indicating increased anxiety
Exp Paradigm: Open field test
|
Open field test |
6-8 weeks |
| |
|
Description: Mecp2 kos have reduced time spent in the center of of and reduced preference for the open arms in the elevated plus maze test indicating increased anxiety
Exp Paradigm: Open field test |
|
|
| Learning & memory |
Object recognition memory: long-term recall5 |
Decreased
Description: Mecp2 ko mice have reduced preference for novel object when the retention period (or interval) is extended to 1 hr from 5 min, whereas wt mice still prefer the novel object
Exp Paradigm: NA
|
Novel object recognition test |
6-8 weeks |
| |
|
Description: Mecp2 ko mice have reduced preference for novel object when the retention period (or interval) is extended to 1 hr from 5 min, whereas wt mice still prefer the novel object
Exp Paradigm: NA |
|
|
| Learning & memory |
Object recognition memory5 |
Decreased
Description: Mecp2 ko mice have reduced object recognition memory and novelty-seeking behavior even when objects differ in shape or color
Exp Paradigm: NA
|
Novel object recognition test |
6-8 weeks |
| |
|
Description: Mecp2 ko mice have reduced object recognition memory and novelty-seeking behavior even when objects differ in shape or color
Exp Paradigm: NA |
|
|
| Molecular profile |
Gene expression2 |
Decreased
Description: Decreased tyrosine hydroxylase (th) mrna expression in pons
Exp Paradigm: Th mrna expression
|
Quantitative pcr (qrt-pcr) |
P15, p30, p50 |
| |
|
Description: Decreased tyrosine hydroxylase (th) mrna expression in pons
Exp Paradigm: Th mrna expression |
|
|
| Molecular profile |
Targeted expression7 |
Decreased
Description: Mecp2 hemizygous pups do not show expression of Mecp2 protein in dorsal root ganglia neurons, whereas wildtype mice do.
Exp Paradigm: NeuN, Mecp2
|
Immunohistochemistry |
P4 |
| |
|
Description: Mecp2 hemizygous pups do not show expression of Mecp2 protein in dorsal root ganglia neurons, whereas wildtype mice do.
Exp Paradigm: NeuN, Mecp2 |
|
|
| Molecular profile |
Protein expression level evidence2 |
Decreased
Description: Decreased levels of tyrosine hdyroxylase (th) protein expression in the locus coeruleus
Exp Paradigm: Th/mecp2 protein expression
|
Immunohistochemistry |
7 weeks |
| |
|
Description: Decreased levels of tyrosine hdyroxylase (th) protein expression in the locus coeruleus
Exp Paradigm: Th/mecp2 protein expression |
|
|
| Emotion |
Exploratory activity5 |
No change |
Textured novel object recognition test (t-nort) |
6-8 weeks |
| Motor phenotype |
Grip strength1 |
No change |
Grip strength test |
Unreported |
| Neurophysiology |
Neural spike train signal frequency3 |
No change |
Whole-cell patch clamp |
3-4 weeks |
| Neurophysiology |
Synaptic transmission3 |
No change |
Whole-cell patch clamp |
3-4 weeks |
| Neurophysiology |
Synaptic transmission: inhibitory3 |
No change |
Whole-cell patch clamp |
3-4 weeks |
| Physiological parameters |
Apoptosis2 |
No change |
Tunel assay |
4, 7.5 weeks |
| Sensory |
Vision1 |
No change |
Forepaw reaching 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, |
