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

Secondary microcephaly

Progressive microcephaly

Stroke

Anorexia

Dysphagia

Spasticity

Lower limb spasticity

Spastic paraplegia

Spastic tetraplegia

Progressive spasticity

Spastic gait

Delayed CNS myelination

Pachygyria

Polymicrogyria

Simplified gyral pattern

Cerebral cortical atrophy

Hypoplasia of the frontal lobes

Hypoplasia of the corpus callosum

Cerebral atrophy

Ataxia

Gait ataxia

Truncal ataxia

Bradykinesia

Parkinsonism

Apraxia

Gait apraxia

Athetosis

Choreoathetosis

Chorea

Involuntary movements

Myoclonus

Tremor

Resting tremor

Babinski sign

EEG abnormality

EEG with focal slow activity

EEG with generalized slow activity

Focal EEG discharges with secondary generalization

Multifocal epileptiform discharges

Anger

Depression

Emotional lability

Irritability

Aggressive behavior

Hyperactivity

Inflexible adherence to routines

Restlessness

Absent speech

Delayed speech and language development

Abnormal nonverbal communicative behavior

Reduced eye contact

Anxiety

Psychosis

Inappropriate crying

Lack of spontaneous play

Reduced social responsiveness

Impaired ability to form peer relationships

Autistic behavior

Autism

Bipolar affective disorder

Abnormal fear-induced behavior

Motor stereotypy

Bruxism

Tongue thrusting

Stereotypical hand wringing

Repetitive compulsive behavior

Restrictive behavior

Motor deterioration

Intellectual disability

Intellectual disability, mild

Intellectual disability, moderate

Intellectual disability, profound

Intellectual disability, progressive

Intellectual disability, severe

Sleep abnormality

Hyperreflexia

Hyperactive deep tendon reflexes

Lower limb hyperreflexia

Dyskinesia

Dystonia

Broad-based gait

Inability to walk

Shuffling gait

Stooped posture

Encephalopathy

Developmental regression

Global developmental delay

Severe global developmental delay

Motor delay

Delayed ability to roll over

Delayed ability to sit

Delayed ability to walk

Persistent head lag

Seizure

Bilateral tonic-clonic seizure

Generalized non-motor (absence) seizure

Focal-onset seizure

Tonic seizure

Status epilepticus

Pain insensitivity

Disease(s) Associated with MECP2

autistic disorder

Rett syndrome

severe congenital encephalopathy due to MECP2 mutation

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

environmentally induced seizures

tonic-clonic seizures

sporadic seizures

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 neuron physiology

decreased excitatory postsynaptic current amplitude

abnormal excitatory postsynaptic potential

reduced long-term potentiation

decreased miniature excitatory postsynaptic current frequency

abnormal miniature inhibitory postsynaptic currents

decreased miniature inhibitory postsynaptic current amplitude

decreased prepulse inhibition

increased prepulse inhibition

abnormal synaptic neurotransmitter level

Availability

Mouse Genotype

Mecp2^tm1.1Vnar/Mecp2^tm1.1Vnar

Mecp2^tm1.1Bird/Mecp2⁺

Mecp2^tm1.1Irsf/Mecp2⁺

Mecp2^tm1.1Jae/Mecp2⁺

Mecp2^tm1.1Jtc/Mecp2⁺

Mecp2^tm1.1Mitoh/Mecp2⁺

Mecp2^tm2Bird/Mecp2⁺

Mecp2^em1Jlzn/Y

Mecp2^tm1.1Bird/Y

Mecp2^tm1.1Dhy/Y

Mecp2^tm1.1Irsf/Y

Mecp2^tm1.1Jae/Y

Mecp2^tm1.1Joez/Y

Mecp2^tm1.1Joez/Y
Tg(Thy1-EGFP)#Jrs/0

Mecp2^tm1.1Mitoh/Y

Mecp2^tm1Bird/Y

Mecp2^tm1Hzo/Y

Mecp2^tm1Nlnd/Y

Mecp2^tm1Pplt/Y

Mecp2^tm1Vnar/Y

Mecp2^tm2.1Joez/Y

Mecp2^tm2.1Meg/Y

Mecp2^tm3.1Jae/Y

Mecp2^tm3Meg/Y

Mecp2^tm2Bird/Mecp2⁺
Tg(CAG-cre/Esr1*)5Amc/? (conditional)

Mecp2^tm1Bird/Y
Sst^{tm2.1(cre)Zjh}/Sst⁺ (conditional)

Mecp2^tm1Bird/Y
Tg(dlx5a-cre)1Mekk/0 (conditional)

Mecp2^tm1Bird/Y
Tg(Slc32a1-cre)2.1Hzo/0 (conditional)

Mecp2^tm1Jae/Y
Tg(Nes-cre)1Atp/0 (conditional)

Mecp2^tm1Jae/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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