|
Symbol Name ID |
Sacs
sacsin MGI:1354724 |
| Darker colors indicate more annotations |
| Human Phenotypes | Absent Achilles reflex |
Hypermyelinated retinal nerve fibers |
Spasticity |
Spastic gait |
Decreased number of large peripheral myelinated nerve fibers |
Onion bulb formation |
Pontine T2 hypointensity |
Cerebellar vermis atrophy |
Loss of Purkinje cells in the cerebellar vermis |
Ataxia |
Dysmetria |
Progressive gait ataxia |
Spastic ataxia |
Progressive truncal ataxia |
Upper motor neuron dysfunction |
Babinski sign |
Decreased motor nerve conduction velocity |
Decreased sensory nerve conduction velocity |
Dysarthria |
Scanning speech |
Intellectual disability |
Hyperreflexia |
Hyperactive patellar reflex |
Falls |
Distal sensory impairment |
Impaired vibration sensation in the lower limbs |
| Disease(s) Associated with SACS | ||||||||||||||||||||||||||
| Charlevoix-Saguenay spastic ataxia |
| Mouse Phenotypes | Purkinje cell degeneration |
abnormal Purkinje cell axon morphology |
abnormal Purkinje cell dendrite morphology |
abnormal motor neuron morphology |
motor neuron degeneration |
abnormal dendrite morphology |
axon degeneration |
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| Availability | Mouse Genotype | |||||||
| Sacstm1(NCOM)Mfgc/Sacstm1(NCOM)Mfgc | ||||||||
| Sacstm2Bebr/Sacstm2Bebr | ||||||||
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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