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Symbol Name ID |
Huwe1
HECT, UBA and WWE domain containing 1 MGI:1926884 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Spastic diplegia |
Ventriculomegaly |
Hypoplasia of the corpus callosum |
Cerebral atrophy |
Poor coordination |
Absent speech |
Delayed speech and language development |
Hyperactivity |
Motor stereotypy |
Intellectual disability |
Sleep abnormality |
Hyperreflexia |
Global developmental delay |
Motor delay |
Delayed ability to walk |
Seizure |
| Disease(s) Associated with HUWE1 | |||||||||||||||||
| syndromic X-linked intellectual disability Turner type |
| Mouse Phenotypes | abnormal neuronal precursor proliferation |
abnormal brain morphology |
decreased brain size |
abnormal dentate gyrus morphology |
abnormal cerebral cortex morphology |
abnormal stratification in cerebral cortex |
thin cerebral cortex |
small cerebellum |
increased neuronal precursor cell number |
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| Availability | Mouse Genotype | |||||||||
| Huwe1tm1Alas/Y Tg(Nes-cre)1Kag/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 04/23/2024 MGI 6.23 |
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