Symbol
Name
ID

Smad4
SMAD family member 4
MGI:894293

Phenotype annotations related to skeleton

Darker colors indicate more annotations

Human Phenotypes	Clubbing	Flexion contracture	Back pain	Neoplasm of the skeletal system
Disease(s) Associated with SMAD4	Clubbing	Flexion contracture	Back pain	Neoplasm of the skeletal system
hereditary hemorrhagic telangiectasia
juvenile polyposis syndrome
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
Lynch syndrome
pancreatic cancer

Mouse Phenotypes

abnormal osteoblast physiology

abnormal tooth morphology

small incisors

abnormal enamel morphology

malocclusion

decreased osteoclast cell number

abnormal tibia morphology

decreased diameter of tibia

short tibia

clavicle hypoplasia

abnormal long bone diaphysis morphology

rib fractures

abnormal bone collagen fibril morphology

decreased bone mineral density

abnormal compact bone lamellar structure

decreased compact bone thickness

increased compact bone thickness

abnormal osteocyte morphology

abnormal trabecular bone morphology

delayed bone ossification

Availability

Mouse Genotype

Smad4^tm2.1Cxd/Smad4^tm2.1Cxd
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0 (conditional)

Smad4^tm2.1Cxd/Smad4⁺
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0 (conditional)

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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