Symbol Name ID |
Arhgef9
CDC42 guanine nucleotide exchange factor 9 MGI:2442233 |
Darker colors indicate more annotations |
Human Phenotypes | Frontal polymicrogyria |
Hypoplasia of the frontal lobes |
Exaggerated startle response |
Intellectual disability, severe |
Epileptic encephalopathy |
Developmental regression |
Global developmental delay |
Bilateral tonic-clonic seizure |
Focal impaired awareness seizure |
Tonic seizure |
Disease(s) Associated with ARHGEF9 | ||||||||||
developmental and epileptic encephalopathy 8 |
Mouse Phenotypes | abnormal neuron morphology |
abnormal synaptic plasticity |
abnormal excitatory postsynaptic potential |
abnormal inhibitory postsynaptic currents |
enhanced long-term potentiation |
reduced long-term depression |
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Availability | Mouse Genotype | ||||||
Arhgef9tm1.1Betz/Y | |||||||
Arhgef9tm1Betz/Y Emx1tm1(cre)Yql/Emx1+ (conditional) |
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Arhgef9tm1Betz/Y Tg(Camk2a-cre)2834Lusc/0 (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 04/23/2024 MGI 6.23 |
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