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Symbol Name ID |
Nus1
NUS1 dehydrodolichyl diphosphate synthase subunit MGI:1196365 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Pseudobulbar paralysis |
Appendicular spasticity |
Cerebral cortical atrophy |
Ataxia |
Gait ataxia |
Tremor |
EEG abnormality |
Delayed speech and language development |
Dysarthria |
Autistic behavior |
Intellectual disability |
Epileptic encephalopathy |
Global developmental delay |
Motor delay |
Seizure |
Bilateral tonic-clonic seizure |
Focal impaired awareness seizure |
Generalized non-motor (absence) seizure |
Generalized myoclonic seizure |
Myoclonic seizure |
Status epilepticus |
| Disease(s) Associated with NUS1 | ||||||||||||||||||||||
| autosomal dominant intellectual developmental disorder 55 | ||||||||||||||||||||||
| congenital disorder of glycosylation Iaa |
| Mouse Phenotypes | abnormal brain vasculature morphology |
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| Availability | Mouse Genotype | |
| Nus1tm1.1Qrm/Nus1tm1.1Qrm Tg(Tek-cre)1Ywa/0 (conditional) |
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| Nus1tm1.1Qrm/Nus1tm1.1Qrm Tg(Cdh5-cre/ERT2)1Rha/0 (conditional) |
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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 05/14/2024 MGI 6.23 |
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