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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Smad4E6sad
Exon 6 splice acceptor deletion
MGI:2449701
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Smad4E6sad/Smad4E6sad involves: 129P2/OlaHsd * C57BL/6 MGI:3766067
ht2
 		Smad4E6sad/Smad4+ B6.129P2-Smad4E6sad MGI:3766121
ht3
 		Smad4E6sad/Smad4+ involves: 129P2/OlaHsd * C57BL/6 MGI:3766068
cx4
 		Apctm1Rak/Apc+
Smad4E6sad/Smad4+ 		B6.129P2-Apctm1Rak +/+ Smad4E6sad MGI:3766126
cx5
 		Apctm1Rak/Apc+
Smad4E6sad/Smad4+ 		B6.129P2-Apctm1Rak Smad4E6sad/+ + MGI:3766123
cx6
 		Apctm2Rfo/Apc+
Smad4E6sad/Smad4+ 		involves: 129P2/OlaHsd * C57BL/6J MGI:4360688


Genotype
MGI:3766067
hm1
Allelic
Composition		 Smad4E6sad/Smad4E6sad
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad4E6sad mutation (0 available); any Smad4 mutation (43 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
prenatal lethality, complete penetrance ( J:81488 )
• no homozygote offspring result from heterozygote crosses

embryo
embryonic growth retardation ( J:81488 )
• embryos are growth restricted at E7.5

growth/size/body
embryonic growth retardation ( J:81488 )
• embryos are growth restricted at E7.5




Genotype
MGI:3766121
ht2
Allelic
Composition		 Smad4E6sad/Smad4+
Genetic
Background		 B6.129P2-Smad4E6sad
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad4E6sad mutation (0 available); any Smad4 mutation (43 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




Genotype
MGI:3766068
ht3
Allelic
Composition		 Smad4E6sad/Smad4+
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad4E6sad mutation (0 available); any Smad4 mutation (43 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
stomach epithelial hyperplasia ( J:81488 )
• some of the polyps found distal of the pyloric/duodenal transition have gastric surface epithelial cells
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




Genotype
MGI:3766126
cx4
Allelic
Composition		 Apctm1Rak/Apc+
Smad4E6sad/Smad4+
Genetic
Background		 B6.129P2-Apctm1Rak +/+ Smad4E6sad
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apctm1Rak mutation (1 available); any Apc mutation (154 available)
Smad4E6sad mutation (0 available); any Smad4 mutation (43 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
gastric polyps ( J:107273 )
• Background Sensitivity: in 100% of mice by 7 months of age
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

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




Genotype
MGI:3766123
cx5
Allelic
Composition		 Apctm1Rak/Apc+
Smad4E6sad/Smad4+
Genetic
Background		 B6.129P2-Apctm1Rak Smad4E6sad/+ +
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apctm1Rak mutation (1 available); any Apc mutation (154 available)
Smad4E6sad mutation (0 available); any Smad4 mutation (43 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 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
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
increased intestinal adenoma incidence ( J:107273 )
• Background Sensitivity: numerous microadenomas in the upper gastrointestinal tract are present upon microscopic inspection

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




Genotype
MGI:4360688
cx6
Allelic
Composition		 Apctm2Rfo/Apc+
Smad4E6sad/Smad4+
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apctm2Rfo mutation (1 available); any Apc mutation (154 available)
Smad4E6sad mutation (0 available); any Smad4 mutation (43 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Phenotypic analysis of the compound in cis Apctm2Rfo/Apc+ Smad4E6sad/Smad4+ mouse model

neoplasm
increased gastrointestinal tumor incidence ( J:151494 )
• unlike in Apctm2Rfo heterozygotes, mice develop multiple gastro-intestinal tumors and adenomatous polyps
increased mammary adenocarcinoma incidence ( J:151494 )
• similar to in Apctm2Rfo heterozygotes

digestive/alimentary system
increased gastrointestinal tumor incidence ( J:151494 )
• unlike in Apctm2Rfo heterozygotes, mice develop multiple gastro-intestinal tumors and adenomatous polyps

integument
increased mammary adenocarcinoma incidence ( J:151494 )
• similar to in Apctm2Rfo heterozygotes

endocrine/exocrine glands
increased mammary adenocarcinoma incidence ( J:151494 )
• similar to in Apctm2Rfo heterozygotes




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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Send questions and comments to User Support. 		last database update
05/14/2024
MGI 6.23 		The Jackson Laboratory