Symbol Name ID |
Ube3a
ubiquitin protein ligase E3A MGI:105098 |
* | 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 |
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) |
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Tg(CAG-cre/Esr1*)5Amc/0 Ube3atm1Yelg/Ube3a+ (conditional) |
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 08/02/2024 MGI 6.24 |
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