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Symbol
Name
ID
Opa1
OPA1, mitochondrial dynamin like GTPase
MGI:1921393
Phenotype annotations related to muscle
*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
Availability Mouse Genotype
Opa1M1Bewi/Opa1+ *
Opa1tm1.1Geno/Opa1+

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
05/21/2024
MGI 6.23
The Jackson Laboratory