Analysis Tools|
Allele Symbol Allele Name Allele ID |
Smad2+ wild type MGI:2182330 |
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| Summary |
13 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E7.5 and E8.5 affected embryos are severely growth retarded
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• at E7.5 in about 20% of embryos, the embryonic cylinder is distorted
• at E8.5 affected embryos are deformed and often outside the yolk sac; however, extraembryonic tissues appear normal
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• in affected embryos the primitive streak forms but fails to extend distally
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• often not formed at E7.5
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• often not formed at E7.5
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• at E7.5 and E8.5 affected embryos are severely growth retarded
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• about 10% of embryos that pass through gastrulation display craniofacial defects
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• absent in some heterozygotes
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• hypoplastic in some heterozygotes
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• about 10% of embryos that pass through gastrulation display craniofacial defects including absence of an eye
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• absent in some heterozygotes
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• hypoplastic in some heterozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• phenotype is stated to be identical to that of Smad2tm1Enl heterozygotes; however no data is presented in J:48467
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• about 10% of heterozygotes are external to the yolk sac
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• E11 mandibular explants cultured in vitro form thinner Meckel's cartilage and show a developmental delay
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• some heterozygotes have severely defective mandibles
• mandible formation is delayed and displaced in first branchial arch explants cultured in vitro
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• E11 mandibular explants cultured in vitro form thinner Meckel's cartilage and show a developmental delay
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• some heterozygotes have severely defective mandibles
• mandible formation is delayed and displaced in first branchial arch explants cultured in vitro
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• some heterozygotes have severely defective eyes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• a small number of mice die suddenly, before thirty weeks of age, as result of lethal intestinal obstruction by large tumorous polyps
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• numerous intestinal tumors develop in homozygotes: compound mutants have more intestinal tumors >4 mm in diameter than Apctm1Mmt heterozygotes
• frequently one or two tumors >6 mm in diameter develop
• 10-15% of intestinal polyps exhibit stromal and vascular invasion
• tubular adenomas vary in size and shape, and solid colonies of poorly differentiated carcinoma cells are sometimes observed
• nuclei display more hyperchromaticity than those in tumors in Apc single heterozygotes; nuclear atypia in tumors is enhanced indicating increased malignancy
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• numerous intestinal tumors develop in homozygotes: compound mutants have more intestinal tumors >4 mm in diameter than Apctm1Mmt heterozygotes
• frequently one or two tumors >6 mm in diameter develop
• 10-15% of intestinal polyps exhibit stromal and vascular invasion
• tubular adenomas vary in size and shape, and solid colonies of poorly differentiated carcinoma cells are sometimes observed
• nuclei display more hyperchromaticity than those in tumors in Apc single heterozygotes; nuclear atypia in tumors is enhanced indicating increased malignancy
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• a small number of mice die suddenly, before thirty weeks of age, as result of lethal intestinal obstruction by large tumorous polyps
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• numerous intestinal tumors develop in homozygotes: compound mutants have more intestinal tumors >4 mm in diameter than Apctm1Mmt heterozygotes
• frequently one or two tumors >6 mm in diameter develop
• 10-15% of intestinal polyps exhibit stromal and vascular invasion
• tubular adenomas vary in size and shape, and solid colonies of poorly differentiated carcinoma cells are sometimes observed
• nuclei display more hyperchromaticity than those in tumors in Apc single heterozygotes; nuclear atypia in tumors is enhanced indicating increased malignancy
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• numerous intestinal tumors develop in homozygotes: compound mutants have more intestinal tumors >4 mm in diameter than Apctm1Mmt heterozygotes
• frequently one or two tumors >6 mm in diameter develop
• 10-15% of intestinal polyps exhibit stromal and vascular invasion
• tubular adenomas vary in size and shape, and solid colonies of poorly differentiated carcinoma cells are sometimes observed
• nuclei display more hyperchromaticity than those in tumors in Apc single heterozygotes; nuclear atypia in tumors is enhanced indicating increased malignancy
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• originally identified in the Smad2tm1Cxd/Smad2+; however no interaction effect of Smad2tm1Cxd genotype was observed
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• higher total body bone density measured by DEXA, as compared to control mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• originally identified in the Smad2tm1Cxd/Smad2+; however no interaction effect of Smad2tm1Cxd genotype was observed
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• low bone mineral content measured by DEXA, as compared to control mice
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• low total bone area as compared to control mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• E11 mandibular explants cultured in vitro form thinner Meckel's cartilage and show a developmental delay
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• E11 mandibular explants cultured in vitro form thinner Meckel's cartilage and show a developmental delay
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• lethality by E14.5 due to hepatic dysplasia
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• 10 of 21 E8.5-E10.5 mutants suffer lethality due to patterning defects
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• severely affected mutants are growth retarded at E9.5
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• E14.5 mutants are somewhat larger in size
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• marker analysis indicates defects in hepatoblast migration
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• liver architecture is distorted
• cultured livers from E10.5 mutants do not exhibit outgrowth of liver lobules with primitive bile ducts as in wild-type, instead, they suffer extensive cell death or fail to develop normal liver architecture
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• dilated sinusoidal spaces
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• marker analysis indicates a delay in hepatogenesis
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• arrangement of hepatocytes is abnormal in E14.5 livers; hepatocytes are found in small clusters and cell plates are absent unlike in wild-type where cords of hepatocytes are distributed throughout in the parenchyma
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• small livers but have the correct number of lobes and appear red
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• 100% of E14.5 mutants exhibit severe liver hypoplasia
(J:70388)
• liver is reduced in some mutants at E12.5-E14.5
(J:106308)
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• hepatocytes cultured in vitro fail to adhere well to various substrates, expression of beta1 integrin is lost, and E-cadherin is mislocalized, indicating that hepatocytes have abnormal adhesive properties
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• liver cells are in a less proliferative state than in wild-type as indicated by PCNA antibody staining
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• increase in the number of erythrocytes in E14.5 livers
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• 20% of E14.5 mutants exhibit craniofacial defects in addition to the liver hypoplaisa
(J:70388)
• some embryos display craniofacial defects as early as E8.5
(J:106308)
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• dilated sinusoidal spaces
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• some embryos exhibit abnormal heart looping
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• some embryos exhibit an enlarged pericardiac cavity
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• anterior ventral foregut defects at E8.5 as indicated by marker analysis, showing that the definitive endoderm fails to displace the visceral endoderm at the anterior intestinal portal
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• 54 of 106 mutants display patterning abnormalities of varying severity at E9.5-E10.5
• some embryos display midline defects as early as E8.5
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• gastrulation defects
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• definitive endoderm is reduced at E8.5 as indicated by marker analysis
• mutants display defects in the specification of hepatogenic endoderm
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• severely affected mutants are growth retarded at E9.5
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• severely affected mutants exhibit irregular somites at E9.5
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• reduced thyroid at E10.5
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• seen in some mutants
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• marker analysis indicates defects in hepatoblast migration
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• liver cells are in a less proliferative state than in wild-type as indicated by PCNA antibody staining
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E9.5 11 of 20 embryos had gastrulation defects similar to those in Smad2 single heterozygotes
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• 3 of 20 turn in the opposite direction compared to wild-type mice
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• 32% (8 of 25) have defects in left-right patterning
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• in the most severe cases the rostral head and eyes are truncated
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• in affected embryos lateral plate mesoderm is restricted to the posterior region
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• 3 of 20 have abnormal heart looping
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• most common cardiac defect in embryos with left-right patterning abnormalities
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• seen in 6 of 25 embryos, these mice also have transposition of the great arteries
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• at E15.5 - E17.5 severe craniofacial defects are seen in 14 of 25 mutants
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• seen in 6 of 25 embryos, these mice also have transposition of the great arteries
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in 1 of 41 mice between E10.5 and E12.5
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• 15 of 41 mice exhibit anterior truncations or a severe growth delay
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• single field
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• 15 of 41 mice exhibit anterior truncations or a severe growth delay
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• single field
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• single field
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• partial failure to separate eyes in 1 of 41 mice between E10.5 and E12.5
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• single field
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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 03/25/2025 MGI 6.24 |
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