|
Symbol Name ID |
Ano5
anoctamin 5 MGI:3576659 |
| * | 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 |
Scapular winging |
Shoulder girdle muscle weakness |
Proximal upper limb muscle weakness |
Upper limb amyotrophy |
Distal lower limb muscle weakness |
Proximal lower limb muscle weakness |
Quadriceps muscle weakness |
Distal upper limb muscle weakness |
Limb-girdle muscular dystrophy |
Pelvic girdle muscle weakness |
Elbow flexion contracture |
Wrist flexion contracture |
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 |
Fatty replacement of skeletal muscle |
Muscular dystrophy |
Myopathy |
Inflammatory myopathy |
Lower limb amyotrophy |
| 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 |
abnormal gastrocnemius morphology |
abnormal tibialis anterior morphology |
centrally nucleated skeletal muscle fibers |
skeletal muscle fiber necrosis |
abnormal skeletal muscle morphology |
abnormal diaphragm morphology |
delayed skeletal muscle regeneration |
impaired skeletal muscle regeneration |
increased muscle fatigability |
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| Availability | Mouse Genotype | |||||||||||
| Ano5em1Huyi/Ano5em1Huyi | ||||||||||||
| Ano5tm1.2Naga/Ano5tm1.2Naga | * | |||||||||||
| Ano5tm1Lrk/Ano5tm1Lrk | * | |||||||||||
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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last database update 03/24/2026 MGI 6.24 |
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