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 |
|
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) |
||
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 09/03/2024 MGI 6.24 |
|
|