All Phenotypes Smad4<tm1Mmt> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Smad4^tm1Mmt
targeted mutation 1, Makoto M Taketo
MGI:1857697

Summary

4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smad4^tm1Mmt/Smad4^tm1Mmt	involves: 129S2/SvPas * C57BL/6	MGI:2182800
ht2	Smad4^tm1Mmt/Smad4⁺	B6.129S2-Smad4^tm1Mmt	MGI:2182801
cx3	Apc^tm1Mmt/Apc⁺ Mmp7^tm1Lmm/Mmp7^tm1Lmm Smad4^tm1Mmt/Smad4⁺	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ	MGI:4365607
cx4	Apc^tm1Mmt/Apc⁺ Smad4^tm1Mmt/Smad4⁺	involves: 129S2/SvPas * C57BL/6	MGI:2182802

Allelic Composition	Smad4^tm1Mmt/Smad4^tm1Mmt
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad4^tm1Mmt mutation (0 available); any Smad4 mutation (43 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:46242 )

• embryos of normal appearance found only before 7 days post-coitum

Allelic Composition	Smad4^tm1Mmt/Smad4⁺
Genetic Background	B6.129S2-Smad4^tm1Mmt

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad4^tm1Mmt mutation (0 available); any Smad4 mutation (43 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

digestive/alimentary system

duodenum polyps ( J:59214 )

• mutants older than 1 year develop inflammatory polyps in the duodenum

gastric polyps ( J:59214 )

• mutants older than 1 year develop inflammatory polyps in the glandular stomach, often in the pyloric region

• polyps show Smad4 loss of heterozygosity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
juvenile polyposis syndrome		DOID:0050787	OMIM:174900	J:59214

Allelic Composition	Apc^tm1Mmt/Apc⁺ Mmp7^tm1Lmm/Mmp7^tm1Lmm Smad4^tm1Mmt/Smad4⁺
Genetic Background	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apc^tm1Mmt mutation (0 available); any Apc mutation (154 available)
Mmp7^tm1Lmm mutation (1 available); any Mmp7 mutation (21 available)
Smad4^tm1Mmt mutation (0 available); any Smad4 mutation (43 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

neoplasm

decreased tumor growth/size ( J:142797 )

• mice exhibit a decrease in tumors size compared to in Apc^tm1Mmt Smad4^tm1Mmt homozygotes

• the ratio of small tumors is increased compared to in Apc^tm1Mmt Smad4^tm1Mmt homozygotes

• however, mice exhibit the same tumor invasion depth and number of fibroblasts in tumor stroma as in Apc^tm1Mmt Smad4^tm1Mmt homozygotes

decreased tumor incidence ( J:142797 )

• mice develop 50% fewer tumors than in Apc^tm1Mmt Smad4^tm1Mmt homozygotes

Allelic Composition	Apc^tm1Mmt/Apc⁺ Smad4^tm1Mmt/Smad4⁺
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apc^tm1Mmt mutation (0 available); any Apc mutation (154 available)
Smad4^tm1Mmt mutation (0 available); any Smad4 mutation (43 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:46242 )

• most mutants become moribund before 14-20 weeks and often die of intussusception of the small intestine

neoplasm

increased intestinal adenocarcinoma incidence ( J:46242 )

• polyps in small and large intestine develop into malignant adenocarcinomas, beginning at about 14 weeks

increased pancreatic ductal adenocarcinoma incidence ( J:46242 )

• adenocarcinomas found in ampullary region of the pancreatic duct, incomplete penetrance

integument

epidermal cyst ( J:46242 )

• in 53% of mice older than 10 weeks, skin epidermoid cysts found in left axillary region and/or ventral side of the neck

endocrine/exocrine glands

increased pancreatic ductal adenocarcinoma incidence ( J:46242 )

• adenocarcinomas found in ampullary region of the pancreatic duct, incomplete penetrance

growth/size/body

epidermal cyst ( J:46242 )

• in 53% of mice older than 10 weeks, skin epidermoid cysts found in left axillary region and/or ventral side of the neck

digestive/alimentary system

increased intestinal adenocarcinoma incidence ( J:46242 )

• polyps in small and large intestine develop into malignant adenocarcinomas, beginning at about 14 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
colorectal cancer		DOID:9256	OMIM:114500	J:46242

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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