Symbol Name ID |
Opa1
OPA1, mitochondrial dynamin like GTPase MGI:1921393 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Weakness of facial musculature |
Achilles tendon contracture |
Scapular winging |
Adductor longus contractures |
Hamstring contractures |
Hypertonia |
Spasticity |
Spastic paraplegia |
Opisthotonus |
Progressive spasticity |
Axial hypotonia |
Frequent falls |
Depletion of mitochondrial DNA in muscle tissue |
Proximal muscle weakness |
Increased variability in muscle fiber diameter |
Skeletal muscle atrophy |
Myopathy |
Disease(s) Associated with OPA1 | |||||||||||||||||
Behr syndrome | |||||||||||||||||
dominant optic atrophy plus syndrome | |||||||||||||||||
mitochondrial DNA depletion syndrome 14 | |||||||||||||||||
optic atrophy | |||||||||||||||||
optic atrophy 1 |
Mouse Phenotypes | muscle phenotype |
abnormal cardiac muscle tissue morphology |
decreased muscle fiber mitochondrial DNA content |
abnormal muscle fiber morphology |
abnormal sarcomere morphology |
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Availability | Mouse Genotype | |||||
Opa1M1Bewi/Opa1+ | * | |||||
Opa1tm1.1Geno/Opa1+ |
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 05/21/2024 MGI 6.23 |
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