Symbol Name ID |
Ep300
E1A binding protein p300 MGI:1276116 |
! | Indicates phenotype varies with strain background. |
Darker colors indicate more annotations |
Human Phenotypes | Microcephaly |
Abnormal corpus callosum morphology |
Agenesis of corpus callosum |
Hyperintensity of cerebral white matter on MRI |
Aplasia/Hypoplasia of the cerebellar vermis |
Chiari malformation |
Spina bifida |
Spina bifida occulta |
Incoordination |
Poor coordination |
EEG abnormality |
Irritability |
Hyperactivity |
Attention deficit hyperactivity disorder |
Impulsivity |
Delayed speech and language development |
Anxiety |
Atypical behavior |
Autistic behavior |
Autism |
Self-mutilation |
Phonophobia |
Short attention span |
Intellectual disability |
Intellectual disability, mild |
Sleep abnormality |
Sleep apnea |
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 | |||
Ep300tm1Dli/Ep300tm1Dli | ||||
Ep300tm1Dli/Ep300+ | ! |
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 08/21/2024 MGI 6.24 |
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