All Phenotypes Smad4<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Smad4⁺
wild type
MGI:1857414

Summary

12 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Smad4^E6sad/Smad4⁺	B6.129P2-Smad4^E6sad	MGI:3766121
ht2	Smad4^tm1Mmt/Smad4⁺	B6.129S2-Smad4^tm1Mmt	MGI:2182801
ht3	Smad4^E6sad/Smad4⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:3766068
ht4	Smad4^tm1Cxd/Smad4⁺	involves: 129S6/SvEvTac	MGI:3653350
ht5	Smad4^m4Mag/Smad4⁺	involves: 129S/Sv * Black Swiss * C57BL/6	MGI:3701498
ht6	Smad4^tm1.1Rob/Smad4⁺	involves: 129S/SvEv * CD-1	MGI:3624715
cn7	Smad4^tm2.1Cxd/Smad4⁺ Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0	involves: 129S6/SvEvTac * C57BL/6J * CD-1	MGI:5604140
cx8	Apc^tm1Rak/Apc⁺ Smad4^E6sad/Smad4⁺	B6.129P2-Apc^tm1Rak +/+ Smad4^E6sad	MGI:3766126
cx9	Apc^tm1Rak/Apc⁺ Smad4^E6sad/Smad4⁺	B6.129P2-Apc^tm1Rak Smad4^E6sad/+ +	MGI:3766123
cx10	Apc^tm2Rfo/Apc⁺ Smad4^E6sad/Smad4⁺	involves: 129P2/OlaHsd * C57BL/6J	MGI:4360688
cx11	Apc^tm1Mmt/Apc⁺ Mmp7^tm1Lmm/Mmp7^tm1Lmm Smad4^tm1Mmt/Smad4⁺	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ	MGI:4365607
cx12	Apc^tm1Mmt/Apc⁺ Smad4^tm1Mmt/Smad4⁺	involves: 129S2/SvPas * C57BL/6	MGI:2182802

Allelic Composition	Smad4^E6sad/Smad4⁺
Genetic Background	B6.129P2-Smad4^E6sad

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad4^E6sad mutation (0 available); any Smad4 mutation (46 available)

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

mortality/aging

decreased tumor-free survival time ( J:107273 )

• 40% of mice have died by 20 months of age due complications from intestinal tumors

digestive/alimentary system

intestine polyps ( J:107273 )

• 10% of mice exhibit polyps by 9 months of age in the small intestine

colon polyps ( J:107273 )

• polyps occur in mice over 15 months of age with an incidence of up to 22%

gastric polyps ( J:107273 )

• 100% of mice have hyperplastic polyps in the stomach at 9 months of age

• tumors increase in size from an average of 3 mm in size at 9 months to 8 mm in size at 18 months

• in the pyloric/duodenal transition area, 100% of mice over 12 months in age have polyps with some exhibiting a carpet of polyps

• polyps were hyperplastic with branching villi and occasionally have serrated edges

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 (46 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	Smad4^E6sad/Smad4⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad4^E6sad mutation (0 available); any Smad4 mutation (46 available)

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

neoplasm

increased intestinal adenoma incidence ( J:81488 )

• tumors ranging in size from 1 to 5 mm are found immediately distal to the pyloric/duodenal transition in mice over 16 months of age

• tumors are heterogeneous with 30% being serrated adenomas

increased stomach tumor incidence ( J:81488 )

• two out of fifteen mice have small hyperplastic lesions present in the gastric mucosa

digestive/alimentary system

increased intestinal adenoma incidence ( J:81488 )

• tumors ranging in size from 1 to 5 mm are found immediately distal to the pyloric/duodenal transition in mice over 16 months of age

• tumors are heterogeneous with 30% being serrated adenomas

stomach epithelial hyperplasia ( J:81488 )

• some of the polyps found distal of the pyloric/duodenal transition have gastric surface epithelial cells

increased stomach tumor incidence ( J:81488 )

• two out of fifteen mice have small hyperplastic lesions present in the gastric mucosa

Allelic Composition	Smad4^tm1Cxd/Smad4⁺
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad4^tm1Cxd mutation (0 available); any Smad4 mutation (46 available)

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

normal phenotype

no abnormal phenotype detected ( J:46852 )

• heterozygotes appear normal in growth, health, and fertility with no detectable tumor formation up to 8 months of age

Allelic Composition	Smad4^m4Mag/Smad4⁺
Genetic Background	involves: 129S/Sv * Black Swiss * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad4^m4Mag mutation (0 available); any Smad4 mutation (46 available)

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

neoplasm

increased tumor incidence ( J:106440 )

increased stomach tumor incidence ( J:106440 )

increased ovary tumor incidence ( J:106440 )

increased lung tumor incidence ( J:106440 )

digestive/alimentary system

abnormal large intestine morphology ( J:106440 )

abnormal cecum morphology ( J:106440 )

abnormal small intestine morphology ( J:106440 )

abnormal duodenum morphology ( J:106440 )

abnormal stomach glandular epithelium morphology ( J:106440 )

disorganized stomach mucosa ( J:106440 )

• stomachs of 11 month old mice, in section, appear disorganized and hyperplastic

gastric polyps ( J:106440 )

• 90% of mice form polyps by 18 months of age

• stomachs of 11 month old mice may appear distended even when empty because the entire stomach comprises hyperproliferated tissue

• polyp structure is indicative of an adenocarcinoma

• lymphocyte infiltration is frequently seen

• varying sized polyps cover the mucosa by 11 months of age

• by 18 months of age 92% of mice have gastric polyps compared with 2% in wild-type siblings

increased stomach tumor incidence ( J:106440 )

endocrine/exocrine glands

increased ovary tumor incidence ( J:106440 )

respiratory system

increased lung tumor incidence ( J:106440 )

reproductive system

increased ovary tumor incidence ( J:106440 )

Allelic Composition	Smad4^tm1.1Rob/Smad4⁺
Genetic Background	involves: 129S/SvEv * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad4^tm1.1Rob mutation (0 available); any Smad4 mutation (46 available)

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

neoplasm

increased stomach tumor incidence ( J:92066 )

• aged heterozygotes develop gastric tumors

digestive/alimentary system

increased stomach tumor incidence ( J:92066 )

• aged heterozygotes develop gastric tumors

Allelic Composition	Smad4^tm2.1Cxd/Smad4⁺ Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
Genetic Background	involves: 129S6/SvEvTac * C57BL/6J * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad4^tm2.1Cxd mutation (2 available); any Smad4 mutation (46 available)
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc mutation (7 available)

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

craniofacial

malocclusion ( J:211171 )

• mice develop oral malocclusion

skeleton

malocclusion ( J:211171 )

• mice develop oral malocclusion

increased compact bone thickness ( J:211171 )

• cortical thickness is 23% higher

growth/size/body

malocclusion ( J:211171 )

• mice develop oral malocclusion

Allelic Composition	Apc^tm1Rak/Apc⁺ Smad4^E6sad/Smad4⁺
Genetic Background	B6.129P2-Apc^tm1Rak +/+ Smad4^E6sad

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apc^tm1Rak mutation (1 available); any Apc mutation (156 available)
Smad4^E6sad mutation (0 available); any Smad4 mutation (46 available)

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

mortality/aging

premature death ( J:107273 )

• Background Sensitivity: all mice have died by 8 months of age due to complications arising from intestinal tumors

digestive/alimentary system

increased intestinal adenocarcinoma incidence ( J:107273 )

• Background Sensitivity: in two of seven mice, adenocarcinomas with invasion of the muscolaris mucosa are observed

increased intestinal adenoma incidence ( J:107273 )

• Background Sensitivity: by 7 months of age, mice present with an average of 20 tumors along the intestinal tract

• Background Sensitivity: tumors are mainly villous or tubulovillous adenomas with foci of severe dysplasia

gastric polyps ( J:107273 )

• Background Sensitivity: in 100% of mice by 7 months of age

neoplasm

increased intestinal adenocarcinoma incidence ( J:107273 )

• Background Sensitivity: in two of seven mice, adenocarcinomas with invasion of the muscolaris mucosa are observed

increased intestinal adenoma incidence ( J:107273 )

• Background Sensitivity: by 7 months of age, mice present with an average of 20 tumors along the intestinal tract

• Background Sensitivity: tumors are mainly villous or tubulovillous adenomas with foci of severe dysplasia

Allelic Composition	Apc^tm1Rak/Apc⁺ Smad4^E6sad/Smad4⁺
Genetic Background	B6.129P2-Apc^tm1Rak Smad4^E6sad/+ +

Find Mice

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

mortality/aging

premature death ( J:107273 )

• Background Sensitivity: all mice have died by 3 months of age due to complications arising from intestinal tumors

neoplasm

increased intestinal adenoma incidence ( J:107273 )

• Background Sensitivity: numerous microadenomas in the upper gastrointestinal tract are present upon microscopic inspection

digestive/alimentary system

increased intestinal adenoma incidence ( J:107273 )

• Background Sensitivity: numerous microadenomas in the upper gastrointestinal tract are present upon microscopic inspection

intestine polyps ( J:107273 )

• Background Sensitivity: an average of 60 tumors per mouse by 6 weeks of age

• Background Sensitivity: polyps are either sessile or villous with mild to severe dysplasia

gastric polyps ( J:107273 )

• Background Sensitivity: found in 25% of 3-6 week old mice

hematopoietic system

enlarged spleen ( J:107273 )

• Background Sensitivity: found in moribund mice

anemia ( J:107273 )

• Background Sensitivity: moribund mice have frank anemia

immune system

enlarged spleen ( J:107273 )

• Background Sensitivity: found in moribund mice

growth/size/body

enlarged spleen ( J:107273 )

• Background Sensitivity: found in moribund mice

Allelic Composition	Apc^tm2Rfo/Apc⁺ Smad4^E6sad/Smad4⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apc^tm2Rfo mutation (1 available); any Apc mutation (156 available)
Smad4^E6sad mutation (0 available); any Smad4 mutation (46 available)

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

Phenotypic analysis of the compound in cis Apc^tm2Rfo/Apc⁺ Smad4^E6sad/Smad4⁺ mouse model

neoplasm

increased gastrointestinal tumor incidence ( J:151494 )

• unlike in Apc^tm2Rfo heterozygotes, mice develop multiple gastro-intestinal tumors and adenomatous polyps

increased mammary adenocarcinoma incidence ( J:151494 )

• similar to in Apc^tm2Rfo heterozygotes

digestive/alimentary system

increased gastrointestinal tumor incidence ( J:151494 )

• unlike in Apc^tm2Rfo heterozygotes, mice develop multiple gastro-intestinal tumors and adenomatous polyps

integument

increased mammary adenocarcinoma incidence ( J:151494 )

• similar to in Apc^tm2Rfo heterozygotes

endocrine/exocrine glands

increased mammary adenocarcinoma incidence ( J:151494 )

• similar to in Apc^tm2Rfo heterozygotes

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 (156 available)
Mmp7^tm1Lmm mutation (1 available); any Mmp7 mutation (21 available)
Smad4^tm1Mmt mutation (0 available); any Smad4 mutation (46 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 (156 available)
Smad4^tm1Mmt mutation (0 available); any Smad4 mutation (46 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

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