Symbol
Name
ID

Chchd10
coiled-coil-helix-coiled-coil-helix domain containing 10
MGI:2143558

Phenotype annotations related to muscle

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
Availability	Mouse Genotype	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
	Chchd10^em3Dpn/Chchd10^em3Dpn
	Chchd10^em8Lutzy/Chchd10⁺

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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