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Symbol
Name
ID

Actn2
actinin alpha 2
MGI:109192

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	Generalized hypotonia	Muscle weakness	Distal muscle weakness	Proximal muscle weakness	Type 1 muscle fiber predominance	Abnormal Z disk morphology	Internally nucleated skeletal muscle fibers	Increased variability in muscle fiber diameter	Muscle fiber atrophy
Disease(s) Associated with ACTN2
congenital myopathy 8

Mouse Phenotypes		muscle phenotype	decreased fetal cardiomyocyte proliferation	abnormal sarcomere morphology	abnormal Z line morphology
Availability	Mouse Genotype	muscle phenotype	decreased fetal cardiomyocyte proliferation	abnormal sarcomere morphology	abnormal Z line morphology
	Actn2^em1Kage/Actn2^em1Kage
	Actn2^em1Kage/Actn2⁺	*

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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