|
Symbol Name ID |
Smad4
SMAD family member 4 MGI:894293 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Gastrointestinal hemorrhage |
Hematemesis |
Hematochezia |
Melena |
Gastrointestinal arteriovenous malformation |
Gastrointestinal angiodysplasia |
Gastrointestinal telangiectasia |
Esophageal varix |
Neoplasm of the rectum |
Rectal prolapse |
Colon cancer |
Hamartomatous polyposis |
Juvenile gastrointestinal polyposis |
Intestinal polyposis |
Intestinal pseudo-obstruction |
Intussusception |
Neoplasm of the stomach |
Multiple gastric polyps |
Constipation |
Diarrhea |
Intermittent diarrhea |
Nausea and vomiting |
Functional intestinal obstruction |
Neoplasm of the liver |
Hepatocellular carcinoma |
Gastrointestinal carcinoma |
Duodenal adenocarcinoma |
| Disease(s) Associated with SMAD4 | |||||||||||||||||||||||||||
| hereditary hemorrhagic telangiectasia | |||||||||||||||||||||||||||
| juvenile polyposis syndrome | |||||||||||||||||||||||||||
| juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome | |||||||||||||||||||||||||||
| Lynch syndrome | |||||||||||||||||||||||||||
| pancreatic cancer |
| Mouse Phenotypes | digestive/alimentary phenotype |
absent foregut |
absent hindgut |
abnormal large intestine morphology |
abnormal cecum morphology |
colon polyps |
abnormal small intestine morphology |
abnormal duodenum morphology |
duodenum polyps |
intestine polyps |
abnormal stomach glandular epithelium morphology |
stomach epithelial hyperplasia |
disorganized stomach mucosa |
gastric polyps |
increased intestinal adenoma incidence |
increased stomach tumor incidence |
|
| Availability | Mouse Genotype | ||||||||||||||||
| Smad4E6sad/Smad4+ | |||||||||||||||||
| Smad4m4Mag/Smad4+ | |||||||||||||||||
| Smad4tm1.1Rob/Smad4+ | |||||||||||||||||
| Smad4tm1Mmt/Smad4+ | |||||||||||||||||
| Smad4tm1Rdp/Smad4tm1Rdp Tg(Pdx1-cre)89.1Dam/0 (conditional) |
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| Smad4tm2.1Cxd/Smad4tm2.1Cxd Tg(Capn8-cre)1Xya/0 (conditional) |
* | ||||||||||||||||
| Smad4tm1Rob/Smad4tm1.1Rob Edil3Tg(Sox2-cre)1Amc/Edil3+ (conditional) |
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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 04/23/2024 MGI 6.23 |
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