Symbol Name ID |
Ano5
anoctamin 5 MGI:3576659 |
Darker colors indicate more annotations |
Human Phenotypes | Bowing of the long bones |
Diaphyseal cortical sclerosis |
Flexion contracture of finger |
Ankle flexion contracture |
Genu recurvatum |
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 |
Disease(s) Associated with ANO5 | ||||||||||||||||||||
autosomal recessive limb-girdle muscular dystrophy type 2L | ||||||||||||||||||||
gnathodiaphyseal dysplasia | ||||||||||||||||||||
Miyoshi muscular dystrophy 3 |
Mouse Phenotypes | abnormal tibia morphology |
bowed tibia |
abnormal gastrocnemius morphology |
abnormal tibialis anterior morphology |
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Availability | Mouse Genotype | ||||
Ano5em1Huyi/Ano5em1Huyi | |||||
Ano5em2Huyi/Ano5em2Huyi | |||||
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 05/14/2024 MGI 6.23 |
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