|
Symbol Name ID |
Hnrnpu
heterogeneous nuclear ribonucleoprotein U MGI:1858195 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Delayed myelination |
Ventriculomegaly |
Myoclonus |
EEG abnormality |
Absent speech |
Intellectual disability |
Epileptic encephalopathy |
Developmental regression |
Global developmental delay |
Seizure |
Bilateral tonic-clonic seizure |
Atypical absence seizure |
Atonic seizure |
Tonic seizure |
Status epilepticus without prominent motor symptoms |
| Disease(s) Associated with HNRNPU | ||||||||||||||||
| developmental and epileptic encephalopathy 54 |
| Mouse Phenotypes | nervous system phenotype |
maximal tonic hindlimb extension seizures |
abnormal brain wave pattern |
|
| Availability | Mouse Genotype | |||
| Hnrnpuem1Frk/Hnrnpu+ | * | |||
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 05/28/2024 MGI 6.13 |
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