|
Symbol Name ID |
Pomk
protein-O-mannose kinase MGI:1921903 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Progressive microcephaly |
Hypoplasia of the brainstem |
Hydrocephalus |
Lissencephaly |
Agyria |
Type II lissencephaly |
Agenesis of corpus callosum |
Cerebellar hypoplasia |
Poor speech |
Intellectual disability, borderline |
Hyporeflexia |
Global developmental delay |
Severe global developmental delay |
Motor delay |
Delayed ability to walk |
Seizure |
Tonic seizure |
| Disease(s) Associated with POMK | ||||||||||||||||||
| congenital muscular dystrophy-dystroglycanopathy type A12 | ||||||||||||||||||
| muscular dystrophy-dystroglycanopathy type C12 |
| Mouse Phenotypes | abnormal neuronal migration |
abnormal Purkinje cell migration |
abnormal cerebellar granule cell migration |
abnormal cerebellar foliation |
hydrocephaly |
abnormal dentate gyrus morphology |
abnormal cerebellum morphology |
abnormal cerebellar cortex morphology |
abnormal cerebellar layer morphology |
ectopic Purkinje cell |
ectopic cerebellar granule cells |
reduced sensorimotor gating |
decreased prepulse inhibition |
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| Availability | Mouse Genotype | |||||||||||||
| PomkGt(OST243203)Lex/PomkGt(OST243203)Lex | ||||||||||||||
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 04/30/2024 MGI 6.23 |
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