Symbol Name ID |
Sh3tc2
SH3 domain and tetratricopeptide repeats 2 MGI:2444417 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Facial paralysis |
Tongue fasciculations |
Drooling |
Difficulty walking |
Frequent falls |
Decreased number of peripheral myelinated nerve fibers |
Demyelinating peripheral neuropathy |
Cerebellar atrophy |
Gait ataxia |
Head tremor |
Vocal cord paresis |
Trigeminal neuralgia |
Decreased motor nerve conduction velocity |
Dysarthria |
Areflexia |
Inability to walk |
Sensorimotor neuropathy |
Impaired pain sensation |
Impaired distal vibration sensation |
Positive Romberg sign |
Sensory ataxia |
Disease(s) Associated with SH3TC2 | |||||||||||||||||||||
Charcot-Marie-Tooth disease type 4C |
Mouse Phenotypes | nervous system phenotype |
abnormal Schwann cell morphology |
abnormal axon morphology |
decreased myelin sheath thickness |
abnormal node of Ranvier morphology |
neurodegeneration |
abnormal myelination |
demyelination |
decreased nerve conduction velocity |
|
Availability | Mouse Genotype | |||||||||
Sh3tc2m1J/Sh3tc2m1J | * | |||||||||
Sh3tc2tm1.1Rchr/Sh3tc2tm1.1Rchr |
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 07/02/2024 MGI 6.13 |
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