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Symbol
Name
ID

Ano5
anoctamin 5
MGI:3576659

Phenotype annotations related to skeleton

Darker colors indicate more annotations

Human Phenotypes

Broad jaw

Mandibular osteomyelitis

Bowing of the long bones

Diaphyseal cortical sclerosis

Flexion contracture of finger

Ankle flexion contracture

Genu recurvatum

Scapular winging

Elbow flexion contracture

Wrist flexion contracture

Osteomyelitis

Flexion contracture

Hamstring contractures

Increased susceptibility to fractures

Recurrent fractures

Thickened cortex of long bones

Scoliosis

Osteopenia

Disease(s) Associated with ANO5

autosomal recessive limb-girdle muscular dystrophy type 2L

gnathodiaphyseal dysplasia

Mouse Phenotypes

enhanced osteoblast differentiation

abnormal osteoblast physiology

abnormal periodontal ligament morphology

abnormal dentin morphology

abnormal mandible morphology

large mandible

mandibular hyperostosis

decreased osteoclast cell number

abnormal osteoclast physiology

osteomyelitis

abnormal tibia morphology

bowed tibia

abnormal skeleton morphology

abnormal long bone diaphysis morphology

abnormal bone collagen fibril morphology

increased bone mineral content

increased bone mineral density

decreased bone volume

increased compact bone thickness

abnormal trabecular bone morphology

decreased bone trabecula number

increased bone trabecular spacing

increased trabecular bone connectivity density

decreased trabecular bone thickness

osteosclerosis

increased bone ossification

decreased bone strength

Availability

Mouse Genotype

Ano5^em1Huyi/Ano5^em1Huyi

Ano5^em2Huyi/Ano5^em2Huyi

Ano5^em1Huyi/Ano5⁺

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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