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Symbol
Name
ID

Afg3l2
AFG3-like AAA ATPase 2
MGI:1916847

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes	Lower limb hypertonia	Lower limb muscle weakness	Increased intramyocellular lipid droplets	Spasticity	Spastic paraparesis	Ragged-red muscle fibers	Distal amyotrophy
Disease(s) Associated with AFG3L2	Lower limb hypertonia	Lower limb muscle weakness	Increased intramyocellular lipid droplets	Spasticity	Spastic paraparesis	Ragged-red muscle fibers	Distal amyotrophy
spastic ataxia 5
spinocerebellar ataxia type 28

Mouse Phenotypes		abnormal skeletal muscle fiber morphology	decreased skeletal muscle fiber size	centrally nucleated skeletal muscle fibers	muscular atrophy	muscle weakness	progressive muscle weakness
Availability	Mouse Genotype	abnormal skeletal muscle fiber morphology	decreased skeletal muscle fiber size	centrally nucleated skeletal muscle fibers	muscular atrophy	muscle weakness	progressive muscle weakness
	Afg3l2^Emv66/Afg3l2^Emv66
	Afg3l2^par/Afg3l2^par

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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