|
Symbol Name ID |
Eef1a2
eukaryotic translation elongation factor 1 alpha 2 MGI:1096317 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Secondary microcephaly |
Cerebral atrophy |
Ataxia |
Incoordination |
Hypsarrhythmia |
Absent speech |
Delayed speech and language development |
Autistic behavior |
Aggressive behavior |
Motor stereotypy |
Bruxism |
Self-injurious behavior |
Hair-pulling |
Intellectual disability, severe |
Sleep abnormality |
Unsteady gait |
Epileptic encephalopathy |
Global developmental delay |
Seizure |
Bilateral tonic-clonic seizure |
Typical absence seizure |
Generalized tonic seizure |
Epileptic spasm |
Infantile spasms |
Myoclonic seizure |
| Disease(s) Associated with EEF1A2 | ||||||||||||||||||||||||||
| autosomal dominant intellectual developmental disorder 38 | ||||||||||||||||||||||||||
| developmental and epileptic encephalopathy 33 |
| Mouse Phenotypes | sporadic seizures |
Purkinje cell degeneration |
gliosis |
abnormal innervation pattern to muscle |
abnormal motor neuron morphology |
motor neuron degeneration |
abnormal neuromuscular synapse morphology |
abnormal spinal cord morphology |
abnormal spinal cord ventral horn morphology |
neurodegeneration |
demyelination |
abnormal endplate potential |
decreased neurotransmitter release |
abnormal neurotransmitter uptake |
|
| Availability | Mouse Genotype | ||||||||||||||
| Eef1a2em1Abb/Eef1a2em1Abb | |||||||||||||||
| Eef1a2em#Abb/Eef1a2em#Abb | |||||||||||||||
| Eef1a2wst/Eef1a2wst | |||||||||||||||
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 04/23/2024 MGI 6.23 |
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