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Symbol
Name
ID
Sh3tc2
SH3 domain and tetratricopeptide repeats 2
MGI:2444417
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Facial palsy
Tongue fasciculations
Difficulty walking
Decreased number of large peripheral myelinated nerve fibers
Basal lamina onion bulb formation
Segmental peripheral demyelination
Abnormal cranial nerve morphology
Decreased motor nerve conduction velocity
Peripheral axonal degeneration
Axonal degeneration
Distal sensory impairment
Prolonged brainstem auditory evoked potentials
Motor delay
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

Contributing Projects:
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
02/11/2020
MGI 6.14
The Jackson Laboratory