Analysis Tools|
Allele Symbol Allele Name Allele ID |
Tgfbr2tm1Karl targeted mutation 1, Stefan Karlsson MGI:2183502 |
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| Summary |
9 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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• mice treated with tamoxifen show similar lung inflammation as single Tg(H2-K-Fosl2,EGFP)13Wag mice
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• mice treated with tamoxifen show similar pulmonary fibrosis as single Tg(H2-K-Fosl2,EGFP)13Wag mice
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• mice treated with tamoxifen show similar lung inflammation as single Tg(H2-K-Fosl2,EGFP)13Wag mice
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| N |
• mice treated with tamoxifen show diminished expansion of the smooth muscle cell area in pulmonary arteries and reduced proliferation of pulmonary artery smooth muscle cells that is seen in single Tg(H2-K-Fosl2,EGFP)13Wag mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice are present at E9.5 but dead by E12.5
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• at E9.5
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• mice lack networks of vessels at all stages
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• at E9.5
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• at E9.5, mice appear delayed by 1 day
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• at E9.5, mice appear delayed by 1 day
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• at E9.5
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• at E9.5
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• mice lack networks of vessels at all stages
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• at E9.5, hearts exhibit pericardial effusion
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• at E9.5, hearts exhibit pericardial effusion
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die between E12.5 and E16.5; only resorbed homozygous embryos are recovered at E16.5
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• while yolk sacs are normal at E9.5 by E12.5 yolk sacs are pale, anemic and possess obvious vasculature defects
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• at E12.5, yolk sacs are pale and anemic
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• while yolk sacs are normal at E9.5 by E12.5 yolk sacs are pale, anemic and possess obvious vasculature defects
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• mice exhibit delayed underdeveloped hearts
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• mice exhibit delayed underdeveloped brains
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• embryonic lethality at mid gestation
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• develop similar yolk sac defects as Tgfbr2 null mice
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• develop similar yolk sac defects as Tgfbr2 null mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• after 5 days of tamoxifen treatment, mice display no weight loss and appeared healthy at 2 and 4 weeks post-tamoxifen; no overt phenotype is observed 3 months following 2 months of tamoxifen treatment
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| N |
• no cellular infiltrates (suggesting autoimmune responses) are detected in organs including liver, kidney, pancreas, heart, colon and thyroid gland from animals that received tamoxifen treatment
• no secondary effects on B cell tolerance indicated by autoantibody production are seen in mice at 6 weeks or 5 months after tamoxifen treatment
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• at 2 and 4 weeks after tamoxifen treatment, mice show a modest but significant transient expansion of effector memory T cells in the spleen and lymph nodes; numbers and frequency of effector memory cells return to control levels at 6 weeks after tamoxifen administration as result of replacement with new T cells
• proliferation of effector memory T cells is increased without similar increase observed for naive T cells or central memory CD4+ T cells
• in mice thymectomized prior to tamoxifen treatment, elevation of effector memory T cells persists in absence of thymic emigration
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• hyperproliferation of regulatory T cells is observed at 2 an 4 weeks after tamoxifen treatment; increased numbers are observed in lymph nodes, the spleen, the lung and Peyer's patches, but not in intestinal lamina propria
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• at 2 and 4 weeks after tamoxifen treatment, mice show a modest but significant transient expansion of effector memory T cells in the spleen and lymph nodes; numbers and frequency of effector memory cells return to control levels at 6 weeks after tamoxifen administration as result of replacement with new T cells
• proliferation of effector memory T cells is increased without similar increase observed for naive T cells or central memory CD4+ T cells
• in mice thymectomized prior to tamoxifen treatment, elevation of effector memory T cells persists in absence of thymic emigration
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• hyperproliferation of regulatory T cells is observed at 2 an 4 weeks after tamoxifen treatment; increased numbers are observed in lymph nodes, the spleen, the lung and Peyer's patches, but not in intestinal lamina propria
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• after induction with polyI:polyC, death 8 - 10 weeks after
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• after induction with polyI:polyC, unsteady
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• after induction with polyI:polyC
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• after induction with polyI:polyC
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• after induction with polyI:polyC
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• after induction with polyI:polyC, dramatic
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• after induction with polyI:polyC
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• after induction with polyI:polyC
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• after induction with polyI:polyC
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• after induction with polyI:polyC
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• after induction with polyI:polyC
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• after induction with polyI:polyC
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• after induction with polyI:polyC
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• after induction with polyI:polyC
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• after induction with polyI:polyC
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• malformations of cranial bones at E18
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• abnormal branching of the left carotid
artery from the brachiocephalic trunk in mutant mice
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• venous congestion
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• defective separation of the aorta from the pulmonary trunk, leading to persistent truncus arteriosis
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• exhibit vasodilatation of the jugular veins
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• heart defects lead to functional right-sided heart failure with venous congestion, resulting in a vasodilatation of the jugular veins
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• 2 of 5 do not have parathyroid glands
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• 3 of 5 exhibit hypoplastic parathyroid glands at E18
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• thymus gland is 58% the size of wild-type at E18
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• thymus gland is 58% the size of wild-type at E18
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• defect in neural crest cell differentiation in the pharyngeal apparatus but not in the migration or survival of neural crest cells
• absence of neural crest-derived smooth muscle cells
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• midbrain abnormalities
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• hindbrain abnormalities
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• malformations of cranial bones at E18
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• malformation of cartilage at E18
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• thymus gland is 58% the size of wild-type at E18
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• defect in neural crest cell differentiation in the pharyngeal apparatus but not in the migration or survival of neural crest cells
• absence of neural crest-derived smooth muscle cells
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• exhibit vasodilatation of the jugular veins
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:96359 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• x-ray analysis reveals dental attrition of the molar cusps at 3 months
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• mandibular molars show a flattened enamel layer in 3-month old animals
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• flattened enamel layer suggests that the molar enamel has a mineralization defect resulting in increased attrition with age
• a >2-fold decrease in molar-mineralized enamel volume is observed at 1 and 2 months compared to controls
• hypomineralized enamel can not be clearly separated from bone and dentin
• molar outer aprismatic enamel shows irregular organization with increased porosity
• enamel crystallites are thin and prismatic showing disorganization
• in mutants ameloblast morphology appears normal in teeth
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• enamel is thinner along molar cusps in 3-month old animals
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• enamel mineralization defect results in increased attrition with age
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• x-ray analysis reveals dental attrition of the molar cusps at 3 months
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• mandibular molars show a flattened enamel layer in 3-month old animals
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• flattened enamel layer suggests that the molar enamel has a mineralization defect resulting in increased attrition with age
• a >2-fold decrease in molar-mineralized enamel volume is observed at 1 and 2 months compared to controls
• hypomineralized enamel can not be clearly separated from bone and dentin
• molar outer aprismatic enamel shows irregular organization with increased porosity
• enamel crystallites are thin and prismatic showing disorganization
• in mutants ameloblast morphology appears normal in teeth
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• enamel is thinner along molar cusps in 3-month old animals
|
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• enamel mineralization defect results in increased attrition with age
|
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• x-ray analysis reveals dental attrition of the molar cusps at 3 months
|
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• mandibular molars show a flattened enamel layer in 3-month old animals
|
|
• flattened enamel layer suggests that the molar enamel has a mineralization defect resulting in increased attrition with age
• a >2-fold decrease in molar-mineralized enamel volume is observed at 1 and 2 months compared to controls
• hypomineralized enamel can not be clearly separated from bone and dentin
• molar outer aprismatic enamel shows irregular organization with increased porosity
• enamel crystallites are thin and prismatic showing disorganization
• in mutants ameloblast morphology appears normal in teeth
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• enamel is thinner along molar cusps in 3-month old animals
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• enamel mineralization defect results in increased attrition with age
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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 12/10/2024 MGI 6.24 |
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