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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 (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no homozygote offspring result from heterozygote crosses

embryo
• embryos are growth restricted at E7.5

growth/size/body
• 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 (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 40% of mice have died by 20 months of age due complications from intestinal tumors

digestive/alimentary system
• 10% of mice exhibit polyps by 9 months of age in the small intestine
• polyps occur in mice over 15 months of age with an incidence of up to 22%
• 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 (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• 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
• two out of fifteen mice have small hyperplastic lesions present in the gastric mucosa

digestive/alimentary system
• 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
• some of the polyps found distal of the pyloric/duodenal transition have gastric surface epithelial cells
• 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 (158 available)
Smad4E6sad mutation (0 available); any Smad4 mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: all mice have died by 8 months of age due to complications arising from intestinal tumors

digestive/alimentary system
• Background Sensitivity: in two of seven mice, adenocarcinomas with invasion of the muscolaris mucosa are observed
• 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
• Background Sensitivity: in 100% of mice by 7 months of age

neoplasm
• Background Sensitivity: in two of seven mice, adenocarcinomas with invasion of the muscolaris mucosa are observed
• 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 (158 available)
Smad4E6sad mutation (0 available); any Smad4 mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: all mice have died by 3 months of age due to complications arising from intestinal tumors

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

digestive/alimentary system
• Background Sensitivity: numerous microadenomas in the upper gastrointestinal tract are present upon microscopic inspection
• 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
• Background Sensitivity: found in 25% of 3-6 week old mice

hematopoietic system
• Background Sensitivity: found in moribund mice
• Background Sensitivity: moribund mice have frank anemia

immune system
• Background Sensitivity: found in moribund mice

growth/size/body
• 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 (158 available)
Smad4E6sad mutation (0 available); any Smad4 mutation (48 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
• unlike in Apctm2Rfo heterozygotes, mice develop multiple gastro-intestinal tumors and adenomatous polyps
• similar to in Apctm2Rfo heterozygotes

digestive/alimentary system
• unlike in Apctm2Rfo heterozygotes, mice develop multiple gastro-intestinal tumors and adenomatous polyps

integument
• similar to in Apctm2Rfo heterozygotes

endocrine/exocrine glands
• similar to in Apctm2Rfo heterozygotes





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory