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Symbol
Name
ID

Ep300
E1A binding protein p300
MGI:1276116

Phenotype annotations related to nervous system

!	Indicates phenotype varies with strain background.
	Darker colors indicate more annotations

Human Phenotypes

Microcephaly

Agenesis of corpus callosum

Hyperintensity of cerebral white matter on MRI

Spina bifida

Spina bifida occulta

Incoordination

Poor coordination

EEG abnormality

Delayed speech and language development

Irritability

Anxiety

Autistic behavior

Autism

Hyperactivity

Attention deficit hyperactivity disorder

Impulsivity

Self-mutilation

Phonophobia

Short attention span

Intellectual disability

Intellectual disability, mild

Sleep abnormality

Obstructive sleep apnea

Hyperreflexia

Unsteady gait

Global developmental delay

Delayed gross motor development

Seizure

Disease(s) Associated with EP300

Rubinstein-Taybi syndrome

Mouse Phenotypes		open neural tube	kinked neural tube	exencephaly
Availability	Mouse Genotype	open neural tube	kinked neural tube	exencephaly
	Ep300^tm1Dli/Ep300^tm1Dli
	Ep300^tm1Dli/Ep300⁺	!

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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