|
Symbol Name ID |
Dhcr7
7-dehydrocholesterol reductase MGI:1298378 |
| Darker colors indicate more annotations |
| Human Phenotypes | Dandy-Walker malformation |
Microcephaly |
Aganglionic megacolon |
Colpocephaly |
Hydrocephalus |
Hypoplasia of the frontal lobes |
Partial agenesis of the corpus callosum |
Hypoplasia of the corpus callosum |
Diffuse cerebral atrophy |
Cerebellar atrophy |
Chiari type I malformation |
Global brain atrophy |
Holoprosencephaly |
Arachnoid cyst |
Periventricular heterotopia |
Irritability |
Autism |
Aggressive behavior |
Hyperactivity |
Self-mutilation |
Intellectual disability |
Sleep-wake cycle disturbance |
Global developmental delay |
Seizure |
| Disease(s) Associated with DHCR7 | ||||||||||||||||||||||||
| Behcet's disease | ||||||||||||||||||||||||
| Smith-Lemli-Opitz syndrome |
| Mouse Phenotypes | decreased brain cholesterol level |
abnormal brain development |
decreased brain size |
dilated lateral ventricle |
dilated third ventricle |
dilated brain ventricle |
abnormal corpus callosum morphology |
abnormal glutamate-mediated receptor currents |
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| Availability | Mouse Genotype | ||||||||
| Dhcr7tm1Fdp/Dhcr7tm1Fdp | |||||||||
| Dhcr7tm1Gst/Dhcr7tm1Gst | |||||||||
| Dhcr7tm2Fdp/Dhcr7tm2Fdp | |||||||||
| Dhcr7tm1Fdp/Dhcr7tm2Fdp | |||||||||
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 05/21/2024 MGI 6.23 |
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