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Symbol
Name
ID
Ano5
anoctamin 5
MGI:3576659
Phenotype annotations related to limbs/digits/tail
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
Availability Mouse Genotype
Ano5em1Huyi/Ano5em1Huyi
Ano5em2Huyi/Ano5em2Huyi
Ano5tm1Lrk/Ano5tm1Lrk

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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last database update
05/14/2024
MGI 6.23
The Jackson Laboratory