|
Symbol Name ID |
Surf1
surfeit gene 1 MGI:98443 |
| * | 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 |
Difficulty walking |
Easy fatigability |
Gliosis |
CNS demyelination |
Leukodystrophy |
Peripheral demyelination |
Axonal loss |
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 |
Leukoencephalopathy |
Diffuse spongiform leukoencephalopathy |
Abnormal thalamic MRI signal intensity |
Abnormal dentate nucleus morphology |
Cerebellar atrophy |
Olivopontocerebellar atrophy |
Ataxia |
Truncal 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 |
Brisk reflexes |
Areflexia |
Dyskinesia |
Dystonia |
Hyperkinetic movements |
Brain imaging abnormality |
Elevated brain lactate level by MRS |
Developmental regression |
Global developmental delay |
Motor delay |
Peripheral neuropathy |
Seizure |
Infantile spasms |
Status epilepticus |
| Disease(s) Associated with SURF1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Charcot-Marie-Tooth disease type 4K | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leigh disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| mitochondrial complex IV deficiency nuclear type 1 |
| Mouse Phenotypes | nervous system phenotype |
decreased susceptibility to neuronal excitotoxicity |
|
| Availability | Mouse Genotype | ||
| Surf1tm1Zev/Surf1tm1Zev | * | ||
| Surf1tm2.1Zev/Surf1tm2.1Zev | |||
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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