|
Symbol Name ID |
Dhdds
dehydrodolichyl diphosphate synthase MGI:1914672 |
| Darker colors indicate more annotations |
| Human Phenotypes | Spasticity |
Chiari type I malformation |
Ataxia |
Bradykinesia |
Tremor |
EEG abnormality |
Delayed speech and language development |
Intellectual disability |
Dystonia |
Epileptic encephalopathy |
Global developmental delay |
Seizure |
Bilateral tonic-clonic seizure |
Myoclonic absence seizure |
Generalized myoclonic seizure |
| Disease(s) Associated with DHDDS | |||||||||||||||
| developmental delay and seizures with or without movement abnormalities | |||||||||||||||
| retinitis pigmentosa 59 |
| Mouse Phenotypes | decreased retina photoreceptor cell number |
abnormal photoreceptor outer segment morphology |
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| Availability | Mouse Genotype | ||
| Dhddstm1.1Sjpi/Dhddstm1.1Sjpi Tg(BEST1-rtTA,tetO-cre)1Yzl/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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