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Name
ID

Ano5
anoctamin 5
MGI:3576659

Phenotype annotations related to muscle

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Facial palsy

Flexion contracture of finger

Ankle flexion contracture

Abnormal calf musculature morphology

Calf muscle hypertrophy

Quadriceps muscle atrophy

Distal lower limb muscle weakness

Scapular winging

Shoulder girdle muscle weakness

Proximal muscle weakness in upper limbs

Upper limb amyotrophy

Proximal muscle weakness in lower limbs

Quadriceps muscle weakness

Limb-girdle muscular dystrophy

Pelvic girdle muscle weakness

Elbow flexion contracture

Wrist flexion contracture

Distal upper limb muscle weakness

Flexion contracture

Hamstring contractures

EMG: axonal abnormality

EMG: myopathic abnormalities

EMG: myotonic runs

EMG: neuropathic changes

Difficulty climbing stairs

Difficulty running

Increased muscle fatiguability

Mitochondrial myopathy

Muscle spasm

Exercise-induced muscle cramps

Proximal muscle weakness

Pelvic girdle muscle atrophy

Abnormal muscle fiber morphology

Internally nucleated skeletal muscle fibers

Increased variability in muscle fiber diameter

Increased endomysial connective tissue

Muscle fiber atrophy

Muscle fiber splitting

Lower limb amyotrophy

Fatty replacement of skeletal muscle

Muscular dystrophy

Myopathy

Inflammatory myopathy

Disease(s) Associated with ANO5

autosomal recessive limb-girdle muscular dystrophy type 2L

isolated elevated serum creatine phosphokinase levels

Miyoshi muscular dystrophy 3

Mouse Phenotypes

muscle phenotype

abnormal skeletal muscle fiber mitochondrial morphology

skeletal muscle fiber necrosis

abnormal gastrocnemius morphology

abnormal tibialis anterior morphology

centrally nucleated skeletal muscle fibers

abnormal skeletal muscle morphology

abnormal diaphragm morphology

delayed skeletal muscle regeneration

impaired skeletal muscle regeneration

increased muscle fatigability

Availability

Mouse Genotype

Ano5^em1Huyi/Ano5^em1Huyi

Ano5^tm1.2Naga/Ano5^tm1.2Naga

*

Ano5^tm1Lrk/Ano5^tm1Lrk

*

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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