|
Symbol Name ID |
Gphn
gephyrin MGI:109602 |
| Darker colors indicate more annotations |
| Human Phenotypes | Hypoplasia of the pons |
Polymicrogyria |
Cerebellar hypoplasia |
Reduced eye contact |
Hyperreflexia |
Severe global developmental delay |
Bilateral tonic-clonic seizure |
Generalized-onset seizure |
Generalized myoclonic seizure |
| Disease(s) Associated with GPHN | |||||||||
| molybdenum cofactor deficiency type C |
| Mouse Phenotypes | abnormal axon extension |
abnormal motor neuron morphology |
decreased motor neuron number |
increased motor neuron number |
motor neuron degeneration |
abnormal neuromuscular synapse morphology |
abnormal nervous system electrophysiology |
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| Availability | Mouse Genotype | |||||||
| Gphntm1Jrs/Gphntm1Jrs | ||||||||
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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