Symbol
Name
ID

Smad4
SMAD family member 4
MGI:894293

Phenotype annotations related to integument

Darker colors indicate more annotations

Human Phenotypes

Spontaneous hematomas

Adenoma sebaceum

Lip telangiectasia

Oral cavity telangiectasia

Palate telangiectasia

Tongue telangiectasia

Nasal mucosa telangiectasia

Conjunctival telangiectasia

Palmar telangiectasia

Breast carcinoma

Gastrointestinal telangiectasia

Retinal telangiectasia

Telangiectasia

Mucosal telangiectasiae

Nail bed telangiectasia

Telangiectasia of the skin

Facial telangiectasia

Fingerpad telangiectases

Jaundice

Cyanosis

Neoplasm of the skin

Basal cell carcinoma

Disease(s) Associated with SMAD4

hereditary hemorrhagic telangiectasia

juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome

Lynch syndrome

ovarian cancer

pancreatic cancer

Mouse Phenotypes

increased keratinocyte proliferation

enlarged sebaceous gland

abnormal hair growth

alopecia

abnormal hypodermis morphology

abnormal hair follicle morphology

thick hair follicle outer root sheath

enlarged hair follicles

hair follicle degeneration

abnormal hair follicle regression

thick epidermis stratum basale

hyperkeratosis

abnormal keratinocyte morphology

thick epidermis

abnormal skin appearance

thick skin

increased skin tumor incidence

increased skin papilloma incidence

abnormal keratinocyte physiology

Availability

Mouse Genotype

Smad4^tm2.1Cxd/Smad4^tm2.1Cxd
Tg(KRT5-cre)1Xya/0 (conditional)

Smad4^tm2.1Cxd/Smad4^tm2.1Cxd
Tg(Krt1-15-cre/PGR*)22Cot/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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