|
Symbol Name ID |
Mdh2
malate dehydrogenase 2, NAD (mitochondrial) MGI:97050 |
| Darker colors indicate more annotations |
| Human Phenotypes | Increased CSF lactate |
Delayed CNS myelination |
Cerebral cortical atrophy |
Corpus callosum atrophy |
Cerebellar atrophy |
Abnormal pyramidal sign |
Babinski sign |
Reduced eye contact |
Absent speech |
Hyporeflexia |
Dyskinesia |
Dystonia |
Inability to walk |
Epileptic encephalopathy |
Global developmental delay |
Delayed ability to crawl |
Delayed ability to sit |
Seizure |
Focal-onset seizure |
Generalized tonic seizure |
Epileptic spasm |
Myoclonic seizure |
| Disease(s) Associated with MDH2 | ||||||||||||||||||||||
| developmental and epileptic encephalopathy 51 |
| Mouse Phenotypes | abnormal neural tube morphology |
abnormal neural tube closure |
abnormal forebrain development |
abnormal midbrain development |
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| Availability | Mouse Genotype | ||||
| Mdh2em1(IMPC)Bay/Mdh2em1(IMPC)Bay | |||||
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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