Symbol Name ID |
Chchd10
coiled-coil-helix-coiled-coil-helix domain containing 10 MGI:2143558 |
Darker colors indicate more annotations |
Human Phenotypes | Weakness of facial musculature |
Facial palsy |
Calf muscle hypertrophy |
Distal lower limb muscle weakness |
Intrinsic hand muscle atrophy |
Proximal muscle weakness in upper limbs |
Proximal muscle weakness in lower limbs |
Increased intramyocellular lipid droplets |
Increased intramuscular fat |
EMG: myopathic abnormalities |
EMG: neuropathic changes |
Difficulty walking |
Muscle spasm |
Cold-induced muscle cramps |
Exercise-induced muscle cramps |
Muscle weakness |
Bulbar palsy |
Neck flexor weakness |
Proximal muscle weakness |
Ragged-red muscle fibers |
Rimmed vacuoles |
Skeletal muscle atrophy |
Spinal muscular atrophy |
Disease(s) Associated with CHCHD10 | |||||||||||||||||||||||
frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | |||||||||||||||||||||||
isolated mitochondrial myopathy | |||||||||||||||||||||||
spinal muscular atrophy, Jokela type |
Mouse Phenotypes | decreased myocardial fiber mitochondrial DNA content |
abnormal tibialis anterior morphology |
abnormal sarcomere morphology |
abnormal skeletal muscle fiber morphology |
decreased skeletal muscle fiber size |
centrally nucleated skeletal muscle fibers |
decreased skeletal muscle mass |
myopathy |
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Availability | Mouse Genotype | ||||||||
Chchd10em3Dpn/Chchd10em3Dpn | |||||||||
Chchd10em8Lutzy/Chchd10+ |
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 04/23/2024 MGI 6.23 |
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