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Symbol
Name
ID
Mecp2
methyl CpG binding protein 2
MGI:99918
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Postnatal microcephaly
Progressive microcephaly
Drooling
Stroke
Dysphagia
Spasticity
Lower limb spasticity
Progressive spasticity
Spastic gait
Delayed myelination
Pachygyria
Simplified gyral pattern
Hypoplasia of the corpus callosum
Cerebral cortical atrophy
EEG abnormality
Focal EEG discharges with secondary generalization
Ataxia
Gait ataxia
Truncal ataxia
Parkinsonism
Apraxia
Gait apraxia
Rigidity
Babinski sign
Dementia
Motor deterioration
Intellectual disability
Intellectual disability, mild
Intellectual disability, moderate
Intellectual disability, profound
Intellectual disability, severe
Absent speech
Hyperreflexia
Hyperactive deep tendon reflexes
Lower limb hyperreflexia
Dyskinesia
Dystonia
Broad-based gait
Shuffling gait
Hyperactivity
Attention deficit hyperactivity disorder
Athetosis
Chorea
Choreoathetosis
Stereotypy
Tongue thrusting
Motor tics
Tremor
Resting tremor
Stooped posture
Abnormal aggressive, impulsive or violent behavior
Aggressive behavior
Irritability
Impaired social interactions
Impaired ability to form peer relationships
Impaired use of nonverbal behaviors
Lack of peer relationships
Poor eye contact
Autistic behavior
Autism
Restrictive behavior
Abnormal fear/anxiety-related behavior
Anxiety
Bipolar affective disorder
Depressivity
Impulsivity
Hostility
Inflexible adherence to routines or rituals
Lack of spontaneous play
Psychomotor retardation
Psychosis
Sleep disturbance
Bruxism
Developmental regression
Delayed speech and language development
Global developmental delay
Severe global developmental delay
Motor delay
Seizures
Disease(s) Associated with MECP2
autistic disorder
Rett syndrome
syndromic X-linked intellectual disability Lubs type
X-linked intellectual disability-psychosis-macroorchidism syndrome

Mouse Phenotypes
nervous system phenotype
increased susceptibility to pharmacologically induced seizures
seizures
tonic-clonic seizures
sporadic seizures
decreased noradrenaline level
decreased serotonin level
increased brain cholesterol level
abnormal brain development
decreased brain weight
increased brain weight
decreased brain size
abnormal hippocampus morphology
abnormal hippocampus CA2 region morphology
abnormal dentate gyrus morphology
abnormal hippocampus pyramidal cell morphology
abnormal hippocampus neuron morphology
abnormal orbitofrontal cortex morphology
abnormal cerebral cortex morphology
abnormal olfactory bulb morphology
abnormal cerebellum morphology
abnormal cerebellar granule layer morphology
decreased CNS synapse formation
abnormal neuron morphology
abnormal dendrite morphology
decreased neuron number
abnormal synaptic vesicle number
abnormal nervous system physiology
abnormal parasympathetic nervous system physiology
abnormal sympathetic nervous system physiology
abnormal hippocampus physiology
abnormal nervous system electrophysiology
abnormal action potential
abnormal brain wave pattern
abnormal excitatory postsynaptic currents
abnormal excitatory postsynaptic potential
reduced long term potentiation
abnormal miniature excitatory postsynaptic currents
abnormal miniature inhibitory postsynaptic currents
decreased prepulse inhibition
increased prepulse inhibition
abnormal neurotransmitter level
Availability Mouse Genotype
Mecp2tm1.1Vnar/Mecp2tm1.1Vnar
Mecp2tm1.1Bird/Mecp2+
Mecp2tm1.1Irsf/Mecp2+
Mecp2tm1.1Jae/Mecp2+
Mecp2tm1.1Jtc/Mecp2+
Mecp2tm1.1Mitoh/Mecp2+ *
Mecp2tm2Bird/Mecp2+
Mecp2tm1.1Bird/Y *
Mecp2tm1.1Dhy/Y
Mecp2tm1.1Irsf/Y
Mecp2tm1.1Jae/Y
Mecp2tm1.1Joez/Y
Mecp2tm1.1Joez/Y
Tg(Thy1-EGFP)#Jrs/0
Mecp2tm1.1Meg/Y
Mecp2tm1.1Mitoh/Y *
Mecp2tm1Bird/Y
Mecp2tm1Hzo/Y
Mecp2tm1Pplt/Y
Mecp2tm1Vnar/Y
Mecp2tm2.1Joez/Y *
Mecp2tm2.1Meg/Y
Mecp2tm3.1Jae/Y
Mecp2tm3Meg/Y
Mecp2tm2Bird/Mecp2+
Tg(CAG-cre/Esr1*)5Amc/?  (conditional)
Mecp2tm1Bird/Y
Ssttm2.1(cre)Zjh/Sst+  (conditional)
Mecp2tm1Bird/Y
Tg(dlx5a-cre)1Mekk/0  (conditional)
Mecp2tm1Bird/Y
Tg(Slc32a1-cre)2.1Hzo/0  (conditional)
*
Mecp2tm1Jae/Y
Tg(Nes-cre)1Atp/0  (conditional)
Mecp2tm1Jae/Y
Tg(Camk2a-cre)93Kln/0  (conditional)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/12/2019
MGI 6.14
The Jackson Laboratory