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Symbol
Name
ID
Smad3
SMAD family member 3
MGI:1201674
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Craniosynostosis
Dolichocephaly
Retrognathia
Malar flattening
Arachnodactyly
Protrusio acetabuli
Knee osteoarthritis
Flexion contracture
Camptodactyly
Joint hypermobility
Osteochondritis dissecans
Abnormal sternum morphology
Pectus carinatum
Scoliosis
Intervertebral disk degeneration
Cervical spine instability
Back pain
Spondylolisthesis
Osteoarthritis
Hip osteoarthritis
Neoplasm of the skeletal system
Disease(s) Associated with SMAD3
Loeys-Dietz syndrome 3
Lynch syndrome
pancreatic cancer

Mouse Phenotypes
osteoarthritis
abnormal carpal bone morphology
abnormal tarsal bone morphology
abnormal talus morphology
increased width of hypertrophic chondrocyte zone
abnormal sternum morphology
abnormal thoracic cage morphology
abnormal rib morphology
kyphosis
kyphoscoliosis
decreased bone mineral density
abnormal cartilage morphology
abnormal chondrocyte morphology
abnormal articular cartilage morphology
abnormal joint morphology
abnormal synovial joint capsule morphology
calcified joint
abnormal epiphyseal plate morphology
abnormal skeleton physiology
Availability Mouse Genotype
Smad3tm1Cxd/Smad3tm1Cxd
Smad3tm1Xfw/Smad3tm1Xfw

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
04/16/2024
MGI 6.23
The Jackson Laboratory