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Symbol
Name
ID

Gaa
glucosidase, alpha, acid
MGI:95609

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes

Macroglossia

Limb muscle weakness

Increased muscle glycogen content

Hypotonia

Difficulty climbing stairs

Difficulty descending stairs

Difficulty walking

Muscle weakness

Diaphragmatic paralysis

Proximal muscle weakness

Respiratory insufficiency due to muscle weakness

Firm muscles

Disease(s) Associated with GAA

glycogen storage disease II

Mouse Phenotypes

increased cardiac muscle glycogen level

abnormal myocardial fiber morphology

heart left ventricle hypertrophy

heart right ventricle hypertrophy

cardiomyopathy

increased skeletal muscle glycogen level

abnormal muscle fiber morphology

abnormal sarcomere morphology

abnormal Z line morphology

abnormal skeletal muscle fiber morphology

decreased skeletal muscle mass

muscular atrophy

abnormal muscle physiology

muscle weakness

progressive muscle weakness

myopathy

Availability

Mouse Genotype

Gaa^tm1.1Rabn/Gaa^tm1.1Rabn

Gaa^tm1Rabn/Gaa^tm1Rabn

Gaa^tm1Vdp/Gaa^tm1Vdp

Gaa^tm2Rabn/Gaa^tm2Rabn

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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