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Symbol Name ID |
Elp2
elongator acetyltransferase complex subunit 2 MGI:1889642 |
| Darker colors indicate more annotations |
| Human Phenotypes | Spastic diplegia |
Choreoathetosis |
Absent speech |
Delayed speech and language development |
Pica |
Aggressive behavior |
Motor stereotypy |
Self-injurious behavior |
Intellectual disability |
Hyperreflexia |
Global developmental delay |
| Disease(s) Associated with ELP2 | |||||||||||
| autosomal recessive intellectual developmental disorder 58 |
| Mouse Phenotypes | abnormal neuron differentiation |
abnormal cortical plate morphology |
abnormal brain interneuron morphology |
abnormal brain white matter morphology |
abnormal brain commissure morphology |
abnormal anterior commissure morphology |
abnormal brain internal capsule morphology |
abnormal forebrain morphology |
abnormal hypothalamus morphology |
decreased neocortex volume |
abnormal somatosensory cortex morphology |
thin cerebral cortex |
Purkinje cell degeneration |
cerebellum atrophy |
abnormal dendrite morphology |
decreased dendritic spine density |
decreased neuronal precursor cell number |
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| Availability | Mouse Genotype | |||||||||||||||||
| Elp2em2Bjw/Elp2em2Bjw | ||||||||||||||||||
| Elp2em2Bjw/Elp2em3Bjw | ||||||||||||||||||
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 04/30/2024 MGI 6.23 |
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