|
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 palsy |
Facial paralysis |
Tongue fasciculations |
Drooling |
Difficulty walking |
Frequent falls |
Decreased number of peripheral myelinated nerve fibers |
Decreased number of large peripheral myelinated nerve fibers |
Basal lamina onion bulb formation |
Segmental peripheral demyelination |
Demyelinating peripheral neuropathy |
Abnormal cranial nerve morphology |
Greater auricular nerve thickening |
Peripheral axonal degeneration |
Axonal degeneration |
Cerebellar atrophy |
Gait ataxia |
Head tremor |
Vocal cord paresis |
Trigeminal neuralgia |
Delayed brainstem auditory evoked response conduction time |
Decreased motor nerve conduction velocity |
Dysarthria |
Areflexia |
Inability to walk |
Motor delay |
Sensorimotor neuropathy |
Impaired pain sensation |
Distal sensory impairment |
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) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 04/30/2024 MGI 6.23 |
|
|
|
||
Analysis Tools