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Symbol
Name
ID
Dst
dystonin
MGI:104627
Phenotype annotations related to muscle
Darker colors indicate more annotations
Human Phenotypes
Flexion contracture
Hypotonia
Generalized hypotonia
Neonatal hypotonia
Disease(s) Associated with DST
hereditary sensory and autonomic neuropathy type 6

Mouse Phenotypes
dystonia
abnormal skeletal muscle fiber mitochondrial morphology
abnormal Z line morphology
abnormal skeletal muscle fiber morphology
decreased skeletal muscle fiber size
abnormal muscle spindle morphology
muscular atrophy
abnormal muscle physiology
impaired skeletal muscle contractility
abnormal muscle electrophysiology
muscle spasm
muscle weakness
Availability Mouse Genotype
Dstdt-23Rbrc/Dstdt-23Rbrc
Dstdt-30J/Dstdt-30J
Dstdt-31J/Dstdt-31J
Dstdt-37J/Dstdt-37J
Dstdt-38J/Dstdt-38J
Dstdt-39J/Dstdt-39J
Dstdt-alb/Dstdt-alb
Dstdt/Dstdt
DstGt(E182H05)Wrst/DstGt(E182H05)Wrst
DstTg4/DstTg4
Dsttm1Efu/Dsttm1Efu

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
04/09/2024
MGI 6.23
The Jackson Laboratory