|
Symbol Name ID |
Ndufs4
NADH:ubiquinone oxidoreductase core subunit S4 MGI:1343135 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Increased CSF lactate |
Dysphagia |
Spasticity |
Spastic diplegia |
Gliosis |
CNS demyelination |
Leukodystrophy |
Sensory axonal neuropathy |
Abnormal brainstem MRI signal intensity |
Focal T2 hyperintense brainstem lesion |
Abnormal basal ganglia MRI signal intensity |
Focal T2 hyperintense basal ganglia lesion |
Focal substantia nigra T2 hyperintensity |
Neuronal loss in basal ganglia |
Agenesis of corpus callosum |
Hypoplasia of the corpus callosum |
Encephalomalacia |
Diffuse spongiform leukoencephalopathy |
Abnormal thalamic MRI signal intensity |
Abnormal dentate nucleus morphology |
Cerebellar atrophy |
Olivopontocerebellar atrophy |
Ataxia |
Abnormality of extrapyramidal motor function |
Athetosis |
Choreoathetosis |
Chorea |
Involuntary movements |
Upper motor neuron dysfunction |
Hypsarrhythmia |
Dysarthria |
Emotional lability |
Progressive neurologic deterioration |
Intellectual disability |
Abnormality of movement |
Hyperreflexia |
Dyskinesia |
Dystonia |
Hyperkinetic movements |
Brain imaging abnormality |
Elevated brain lactate level by MRS |
Developmental regression |
Global developmental delay |
Peripheral neuropathy |
Seizure |
Infantile spasms |
Status epilepticus |
| Disease(s) Associated with NDUFS4 | |||||||||||||||||||||||||||||||||||||||||||||||
| Leigh disease |
| Mouse Phenotypes | nervous system phenotype |
seizures |
environmentally induced seizures |
tonic-clonic seizures |
abnormal brain vasculature morphology |
intracranial hemorrhage |
brainstem hemorrhage |
microgliosis |
abnormal medulla oblongata morphology |
abnormal olfactory bulb external plexiform layer morphology |
Purkinje cell degeneration |
abnormal cerebellum lobule morphology |
abnormal cerebellum fastigial nucleus morphology |
brain vacuoles |
astrocytosis |
gliosis |
abnormal neuron morphology |
neuron degeneration |
optic nerve atrophy |
neurodegeneration |
axonal spheroids |
spongiform encephalopathy |
abnormal pre-Botzinger complex physiology |
abnormal neuron physiology |
|
| Availability | Mouse Genotype | ||||||||||||||||||||||||
| Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa | * | ||||||||||||||||||||||||
| Ndufs4tm1Rpa/Ndufs4tm1Rpa Tg(Pcp2-cre)3555Jdhu/0 (conditional) |
* | ||||||||||||||||||||||||
| Ndufs4tm1Rpa/Ndufs4tm1Rpa Tg(Nes-cre)1Kln/0 (conditional) |
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| Ndufs4tm1Rpa/Ndufs4tm1Rpa (conditional) | |||||||||||||||||||||||||
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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