|
Symbol Name ID |
Phgdh
3-phosphoglycerate dehydrogenase MGI:1355330 |
| Darker colors indicate more annotations |
| Human Phenotypes | Dandy-Walker malformation |
Primary microcephaly |
Spastic tetraplegia |
Cerebral dysmyelination |
Choroid plexus cyst |
Ventriculomegaly |
Lissencephaly |
Agenesis of corpus callosum |
Hydranencephaly |
Cerebellar hypoplasia |
Brain atrophy |
Spina bifida |
Hypsarrhythmia |
Intellectual disability |
Seizure |
| Disease(s) Associated with PHGDH | |||||||||||||||
| Neu-Laxova syndrome 1 | |||||||||||||||
| PHGDH deficiency |
| Mouse Phenotypes | abnormal neuron differentiation |
abnormal embryonic neuroepithelial layer differentiation |
abnormal brain development |
decreased brain weight |
forebrain hypoplasia |
decreased brain size |
enlarged lateral ventricles |
absent olfactory bulb |
abnormal hindbrain morphology |
absent cerebellum |
abnormal nervous system development |
abnormal embryonic/fetal subventricular zone morphology |
exencephaly |
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| Availability | Mouse Genotype | |||||||||||||
| Phgdhtm1.1Shfu/Phgdhtm1.1Shfu | ||||||||||||||
| Phgdhtm1b(KOMP)Wtsi/Phgdhtm1b(KOMP)Wtsi | ||||||||||||||
| Phgdhtm1.2Shfu/Phgdhtm1.2Shfu Tg(GFAP-cre)25Mes/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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