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Symbol
Name
ID 		Ube3a
ubiquitin protein ligase E3A
MGI:105098
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
!Indicates phenotype varies with strain background.
Darker colors indicate more annotations
Human Phenotypes
Secondary microcephaly
Drooling
Cerebral cortical atrophy
Ataxia
Progressive gait ataxia
Clumsiness
Limb tremor
EEG abnormality
Absent speech
Happy demeanor
Paroxysmal bursts of laughter
Hyperactivity
Intellectual disability, progressive
Intellectual disability, severe
Sleep-wake cycle disturbance
Hyperreflexia
Broad-based gait
Global developmental delay
Motor delay
Delayed ability to walk
Seizure
Disease(s) Associated with UBE3A
Angelman syndrome

Mouse Phenotypes
nervous system phenotype
audiogenic seizures
tonic-clonic seizures
absence seizures
abnormal spike wave discharge
decreased brain weight
abnormal cerebral cortex morphology
small cerebellum
abnormal dendrite morphology
abnormal nervous system electrophysiology
abnormal brain wave pattern
abnormal GABA-mediated receptor currents
abnormal long-term potentiation
reduced long-term potentiation
Availability Mouse Genotype
Ube3aem1Mjz/Ube3aem1Mjz *
Ube3atm1Alb/Ube3atm1Alb !
Ube3aem1Mjz/Ube3a+ *
Ube3atm1Alb/Ube3a+ !
Ube3atm1Jwf/Ube3a+
Ube3atm1Yelg/Ube3a+
Ube3atm1.1Bdph/Ube3a+
7630403G23RikTg(Th-cre)1Tmd/7630403G23Rik+  (conditional)
Tg(CAG-cre/Esr1*)5Amc/0
Ube3atm1Yelg/Ube3a+  (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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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory