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Symbol
Name
ID

Tfam
transcription factor A, mitochondrial
MGI:107810

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes

Foot dorsiflexor weakness

Lower limb muscle weakness

Upper limb muscle weakness

Gastroparesis

Rigidity

Spasticity

Depletion of mitochondrial DNA in muscle tissue

Muscle spasm

Fatigable weakness of bulbar muscles

Fatigable weakness of swallowing muscles

Fatigable weakness of respiratory muscles

Generalized muscle weakness

Skeletal muscle atrophy

Progressive distal muscular atrophy

Progressive spinal muscular atrophy

Disease(s) Associated with TFAM

amyotrophic lateral sclerosis

Huntington's disease

mitochondrial DNA depletion syndrome 15

Parkinson's disease

Mouse Phenotypes		dilated cardiomyopathy	increased cardiomyocyte apoptosis	increased skeletal muscle fiber size	impaired skeletal muscle contractility	muscle spasm
Availability	Mouse Genotype	dilated cardiomyopathy	increased cardiomyocyte apoptosis	increased skeletal muscle fiber size	impaired skeletal muscle contractility	muscle spasm
	Tfam^tm1Lrsn/Tfam^tm1Lrsn Tg(Ckmm-cre)1Lrsn/0 (conditional)
	Myl1^tm1(cre)Sjb/Myl1⁺ Tfam^tm1Lrsn/Tfam^tm1Lrsn (conditional)
	Slc6a3^tm1(cre)Lrsn/Slc6a3⁺ Tfam^tm1Lrsn/Tfam^tm1Lrsn (conditional)

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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