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Symbol
Name
ID

Smad4
SMAD family member 4
MGI:894293

Phenotype annotations related to craniofacial

Darker colors indicate more annotations

Human Phenotypes	Epistaxis	Spontaneous, recurrent epistaxis	Adenoma sebaceum	Lip telangiectasia	Oral cavity telangiectasia	Palate telangiectasia	Tongue telangiectasia	Salivary gland neoplasm	Nasal mucosa telangiectasia	Conjunctival telangiectasia
Disease(s) Associated with SMAD4	Epistaxis	Spontaneous, recurrent epistaxis	Adenoma sebaceum	Lip telangiectasia	Oral cavity telangiectasia	Palate telangiectasia	Tongue telangiectasia	Salivary gland neoplasm	Nasal mucosa telangiectasia	Conjunctival telangiectasia
hereditary hemorrhagic telangiectasia
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
Lynch syndrome

Mouse Phenotypes		abnormal tooth morphology	small incisors	abnormal enamel morphology	malocclusion
Availability	Mouse Genotype	abnormal tooth morphology	small incisors	abnormal enamel morphology	malocclusion
	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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/09/2024 MGI 6.23