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Symbol Name ID |
Nhlrc1
NHL repeat containing 1 MGI:2145264 |
| Darker colors indicate more annotations |
| Human Phenotypes | Lafora bodies |
Apraxia |
Myoclonus |
Psychosis |
Visual hallucination |
Dementia |
Progressive neurologic deterioration |
Gait disturbance |
Bilateral tonic-clonic seizure |
Bilateral tonic-clonic seizure with focal onset |
Generalized non-motor (absence) seizure |
Focal sensory seizure with visual features |
Generalized myoclonic seizure |
| Disease(s) Associated with NHLRC1 | |||||||||||||
| Lafora disease |
| Mouse Phenotypes | abnormal seizure response to pharmacological agent |
increased susceptibility to pharmacologically induced seizures |
abnormal seizure response to electrical stimulation |
myoclonus |
abnormal spike wave discharge |
increased brain glycogen level |
abnormal brain morphology |
abnormal brain interneuron morphology |
hippocampal neuron degeneration |
abnormal glial cell morphology |
abnormal astrocyte morphology |
gliosis |
abnormal neuron morphology |
neuron degeneration |
Lafora bodies |
abnormal excitatory postsynaptic potential |
enhanced long-term potentiation |
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| Availability | Mouse Genotype | |||||||||||||||||
| Nhlrc1tm1(KOMP)Vlcg/Nhlrc1tm1(KOMP)Vlcg | ||||||||||||||||||
| Nhlrc1tm1.2Geno/Nhlrc1tm1.2Geno | ||||||||||||||||||
| Nhlrc1tm1Bmin/Nhlrc1tm1Bmin | ||||||||||||||||||
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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