Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1tm2Sho mutation
(1 available);
any
Gata1 mutation
(44 available)
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skeleton
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• the number of osteoclasts is increased by greater than 3-fold compared to in wild-type mice and is accompanied by a proportional increase in osteoblasts
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• at 5 to 9 months of age, the cortical bone is increased 2- to 3-fold compared to in wild-type mice
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• trabecular bone volume for the entire medullary canal is increased 150-fold compared to in wild-type mice
• at 5 to 9 months of age, the trabecular bone is increased 2- to 3-fold compared to in wild-type mice
• at 5 months, the diaphyseal shafts are occluded with bone unlike in wild-type mice
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• the number of osteoblasts is increased by greater than 3-fold compared to in wild-type mice and is accompanied by a proportional increase in osteoclasts
• osteoblast proliferation is increased up to 6-fold when cultured with megakaryocytes compared to in wild-type mice
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• bone formation is increased 2.7-fold compared to in wild-type mice
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hematopoietic system
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• the number of osteoclasts is increased by greater than 3-fold compared to in wild-type mice and is accompanied by a proportional increase in osteoblasts
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immune system
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• the number of osteoclasts is increased by greater than 3-fold compared to in wild-type mice and is accompanied by a proportional increase in osteoblasts
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|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1tm2Sho mutation
(1 available);
any
Gata1 mutation
(44 available)
|
|
|
hematopoietic system
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• no sign of active hemopoiesis is seen in the liver of mutants after birth (1-12 months of age), however by 18 months of age, foci of hematopoiesis are seen in the liver parenchyma
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• number of myeloid progenitor cells (CFU-GM) circulating in the blood increases by 2- to 10-fold at 8-12 months of age and remain higher than normal after this time
(J:78348)
• spleen and marrow contains increased numbers of megakaryocytic and bipotent (erythroid/megakaryocytic) precursors
(J:78540)
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• transition of the major hematopoietic site from the marrow to the spleen
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• mutants become anemic from 15 months of age
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• total marrow cellularity is reduced already at 4-8 months of age and further reduced by 2-fold at 15-20 months of age
(J:78348)
• 2- to 3-fold decrease in the frequency of all types of progenitor cells in the bone marrow with age; when adjusted for the reduction in total marrow cellularity, corresponds to a 4-fold reduction in total number of progenitor cells per femur
(J:78348)
• bone marrow contains 3 times fewer cells than wild-type
(J:78540)
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• erythroid progenitors (BFU-E, CFU-E) in the spleen, though higher than in wild-type mice, decrease 2- to 3-fold over time in mutants
(J:78348)
(J:78540)
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• overall erythroid precursor cell content in the marrow is lower than in wild-type
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• number of erythroid progenitor cells (CFU-E and BFU-E) circulating in the blood increases by 2- to 10-fold at 8-12 months of age and remain higher than normal after this time
(J:78348)
• marrow and spleen contain a higher frequency of burst-forming units-erythroid (BFU-E)- and colony-forming units-erythroid (CFU-E) derived colonies
(J:78540)
• spleen contains 7-20-fold higher numbers of erythroid precursors and bipotent (erythroid/megakaryocytic) precursors
(J:78540)
• phenylhydrazine (PHZ) treated mutants exhibit an increase in CFU-E
(J:78540)
• erythropoietin (EPO) treated mutants exhibit an increase in both early (BFU-E) and late (CFU-E) progenitor cells in the marrow and spleen
(J:78540)
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• number of megakaryocyte progenitor cells (CFU-Mk) circulating in the blood increases by 18-20 months of age
• frequency of megakaryocytic progenitors (CFU-Mkp and CFU-Mkm) in the spleen, which are already higher at 4-8 months of age, further increases at 15-20 months
• however, due to the overall decrease in spleen cellularity, the total number of progenitor cells of all types in the spleen decreases with age
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• number of circulating red cells is decreased at 15-20 months of age
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• mutants exhibit an accelerated hematocrit response to both acute (PHZ treatment) and chronic (EPO administration) erythroid stimulation which lasts longer than in wild-type
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• erythrocytes with Howell-Jolly bodies are seen in the blood
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• tear-drop poikilocytes are seen in the blood
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• erythrocytes with polychromatophilia are seen in the blood
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• progressive increase in the percentages of neutrophils by 15-20 months of age
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(J:78348)
• 10-fold decrease in platelet numbers
(J:78540)
• mutants are thrombocytopenic in response to phenylhydrazine (PHZ)-induced anemia or erythropoietin (EPO)-iduced polycythemia but have normal hematocrit levels
(J:78540)
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(J:78348)
• platelets appear abnormal and bigger than normal platelets
(J:78540)
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• progressive decrease in the percentage of lymphocytes
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• accumulation of reticulin fibers with age in the spleen
• while spleen size further increases with age, total spleen cellularity, though remaining significantly higher than in normal mice, decreases with age; total number of cells in the spleen is first reduced at 8-12 months of age
• however, due to the overall decrease in spleen cellularity, the total number of progenitor cells of all types in the spleen decreases with age
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• spleen size increases with age and at 15-20 months of age is due to an accumulation of collagen fibers
(J:78348)
• spleens are 2.5-fold larger
(J:78540)
• spleens of PHZ-and EPO-treated mutants are bigger and contain more cells than treated controls
(J:78540)
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• the interfollicular space of the red pulp is filled with abnormally large and dysplastic megakaryocytes
• red pulp and subcapsulary space are filled with lymphocyte-sized cells resembling immature erythroid cells
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• spleen contains 3 times more cells than wild-type
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homeostasis/metabolism
immune system
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• progressive increase in the percentages of neutrophils by 15-20 months of age
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• progressive decrease in the percentage of lymphocytes
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• accumulation of reticulin fibers with age in the spleen
• while spleen size further increases with age, total spleen cellularity, though remaining significantly higher than in normal mice, decreases with age; total number of cells in the spleen is first reduced at 8-12 months of age
• however, due to the overall decrease in spleen cellularity, the total number of progenitor cells of all types in the spleen decreases with age
|
|
|
• spleen size increases with age and at 15-20 months of age is due to an accumulation of collagen fibers
(J:78348)
• spleens are 2.5-fold larger
(J:78540)
• spleens of PHZ-and EPO-treated mutants are bigger and contain more cells than treated controls
(J:78540)
|
|
|
• the interfollicular space of the red pulp is filled with abnormally large and dysplastic megakaryocytes
• red pulp and subcapsulary space are filled with lymphocyte-sized cells resembling immature erythroid cells
|
|
|
• spleen contains 3 times more cells than wild-type
|
skeleton
|
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• starting at 12 months of age, a progressive reduction of the space available in the bone marrow for hemopoietic cells due to the simultaneous increase of bone trabeculae and intracellular matrix
(J:78348)
• progressive accumulation of fibers in the intercellular space of the marrow; the fibers change from fine and diffuse reticulin fibers at 6 months of age to gross collagen fibers from 12 months on and almost completely fills the femoral cavity
(J:78348)
• bone marrow contains larger-than-normal red cells and apoptotic cells
(J:78540)
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• myelofibrotic degeneration of the marrow and spleen with age; about 7 times more megakaryocytes in the bone marrow than controls
• expression of growth factor genes implicated in the development of myelofibrosis is increased in the marrow
• presence of tear-drop poikilocytes and progenitor cells in the blood, collagen fibers in the marrow and in the spleen and hemopoietic foci in the liver, all markers of myelofibrosis
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• starting at 12 months of age, an increase of bone trabeculae is seen in the bone marrow
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• in the oldest mice, increased osteogenesis eventually occludes the femoral cavity
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liver/biliary system
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• starting from 8-12 months of age, significant numbers of progenitor cells are seen in the liver that increases further at 15-20 months of age
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mortality/aging
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• most mutants die between 14 and 20 months of age, and only 9 survive past 20 months of age
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• 9 of 178 mutants born alive die within the first 15 days of life
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• only 30% of pregnancies induced result in viable pups
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growth/size/body
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• spleen size increases with age and at 15-20 months of age is due to an accumulation of collagen fibers
(J:78348)
• spleens are 2.5-fold larger
(J:78540)
• spleens of PHZ-and EPO-treated mutants are bigger and contain more cells than treated controls
(J:78540)
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Allelic
Composition |
Gata1tm2Sho/Gata1+
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Genetic
Background |
involves: 129S4/SvJae * C57BL/6 |
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1tm2Sho mutation
(1 available);
any
Gata1 mutation
(44 available)
|
|
|
hematopoietic system
|
|
• large increase in megakaryocytes in hematopoietic tissues, presumably because of mosaicism resulting from random X inactivation
• excess of abnormal megakaryocytes in the yolk sac and early fetal liver
• however, normal numbers of platelets
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• proliferation of megakaryocyte progenitors is greatly enhanced in fetal livers, presumably because of mosaicism resulting from random X inactivation
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cellular
Allelic
Composition |
Gata1tm2Sho/Y
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Genetic
Background |
involves: 129S4/SvJae * C57BL/6 |
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1tm2Sho mutation
(1 available);
any
Gata1 mutation
(44 available)
|
|
|
mortality/aging
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• 5% of males survive fetal anemia into adult life
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hematopoietic system
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• megakaryocytes are smaller than normal, have scant cytoplasm and condensed nuclei
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• maturation of megakaryocytes is arrested
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• 100-fold increase in megakaryocytes in the spleen and bone marrow
• excess of abnormal megakaryocytes in the yolk sac and early fetal liver
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• proliferation of megakaryocyte progenitors is greatly enhanced in fetal livers
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• platelet numbers are reduced to about 15% of normal
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cellular
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• maturation of megakaryocytes is arrested
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Allelic
Composition |
Gata1tm2Sho/Y
|
|
Genetic
Background |
involves: 129S4/SvJae * C57BL/6 * CD-1 |
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1tm2Sho mutation
(1 available);
any
Gata1 mutation
(44 available)
|
|
|
hematopoietic system
|
|
• no sign of active hemopoiesis is seen in the liver of mutants after birth (1-12 months of age), however by 18 months of age, foci of hematopoiesis are seen in the liver parenchyma
|
|
|
• number of myeloid progenitor cells (CFU-GM) circulating in the blood increases by 2- to 10-fold at 8-12 months of age and remain higher than normal after this time
(J:78348)
• spleen and marrow contains increased numbers of megakaryocytic and bipotent (erythroid/megakaryocytic) precursors
(J:78540)
|
|
|
• transition of the major hematopoietic site from the marrow to the spleen
|
|
|
• mutants become anemic from 15 months of age
|
|
|
• total marrow cellularity is reduced already at 4-8 months of age and further reduced by 2-fold at 15-20 months of age
(J:78348)
• 2- to 3-fold decrease in the frequency of all types of progenitor cells in the bone marrow with age; when adjusted for the reduction in total marrow cellularity, corresponds to a 4-fold reduction in total number of progenitor cells per femur
(J:78348)
• bone marrow contains 3 times fewer cells than wild-type
(J:78540)
|
|
|
• erythroid progenitors (BFU-E, CFU-E) in the spleen, though higher than in wild-type mice, decrease 2- to 3-fold over time in mutants
(J:78348)
(J:78540)
|
|
|
• overall erythroid precursor cell content in the marrow is lower than in wild-type
|
|
|
• number of erythroid progenitor cells (CFU-E and BFU-E) circulating in the blood increases by 2- to 10-fold at 8-12 months of age and remain higher than normal after this time
(J:78348)
• marrow and spleen contain a higher frequency of burst-forming units-erythroid (BFU-E)- and colony-forming units-erythroid (CFU-E) derived colonies
(J:78540)
• spleen contains 7-20-fold higher numbers of erythroid precursors and bipotent (erythroid/megakaryocytic) precursors
(J:78540)
• phenylhydrazine (PHZ) treated mutants exhibit an increase in CFU-E
(J:78540)
• erythropoietin (EPO) treated mutants exhibit an increase in both early (BFU-E) and late (CFU-E) progenitor cells in the marrow and spleen
(J:78540)
|
|
|
• number of megakaryocyte progenitor cells (CFU-Mk) circulating in the blood increases by 18-20 months of age
• frequency of megakaryocytic progenitors (CFU-Mkp and CFU-Mkm) in the spleen, which are already higher at 4-8 months of age, further increases at 15-20 months
• however, due to the overall decrease in spleen cellularity, the total number of progenitor cells of all types in the spleen decreases with age
|
|
|
• number of circulating red cells is decreased at 15-20 months of age
|
|
|
• mutants exhibit an accelerated hematocrit response to both acute (PHZ treatment) and chronic (EPO administration) erythroid stimulation which lasts longer than in wild-type
|
|
|
• erythrocytes with Howell-Jolly bodies are seen in the blood
|
|
|
• tear-drop poikilocytes are seen in the blood
|
|
|
• erythrocytes with polychromatophilia are seen in the blood
|
|
|
• progressive increase in the percentages of neutrophils by 15-20 months of age
|
|
|
(J:78348)
• 10-fold decrease in platelet numbers
(J:78540)
• mutants are thrombocytopenic in response to phenylhydrazine (PHZ)-induced anemia or erythropoietin (EPO)-iduced polycythemia but have normal hematocrit levels
(J:78540)
|
|
|
(J:78348)
• platelets appear abnormal and bigger than normal platelets
(J:78540)
|
|
|
• progressive decrease in the percentage of lymphocytes
|
|
|
• accumulation of reticulin fibers with age in the spleen
• while spleen size further increases with age, total spleen cellularity, though remaining significantly higher than in normal mice, decreases with age; total number of cells in the spleen is first reduced at 8-12 months of age
• however, due to the overall decrease in spleen cellularity, the total number of progenitor cells of all types in the spleen decreases with age
|
|
|
• spleen size increases with age and at 15-20 months of age is due to an accumulation of collagen fibers
(J:78348)
• spleens are 2.5-fold larger
(J:78540)
• spleens of PHZ-and EPO-treated mutants are bigger and contain more cells than treated controls
(J:78540)
|
|
|
• the interfollicular space of the red pulp is filled with abnormally large and dysplastic megakaryocytes
• red pulp and subcapsulary space are filled with lymphocyte-sized cells resembling immature erythroid cells
|
|
|
• spleen contains 3 times more cells than wild-type
|
homeostasis/metabolism
immune system
|
|
• progressive increase in the percentages of neutrophils by 15-20 months of age
|
|
|
• progressive decrease in the percentage of lymphocytes
|
|
|
• accumulation of reticulin fibers with age in the spleen
• while spleen size further increases with age, total spleen cellularity, though remaining significantly higher than in normal mice, decreases with age; total number of cells in the spleen is first reduced at 8-12 months of age
• however, due to the overall decrease in spleen cellularity, the total number of progenitor cells of all types in the spleen decreases with age
|
|
|
• spleen size increases with age and at 15-20 months of age is due to an accumulation of collagen fibers
(J:78348)
• spleens are 2.5-fold larger
(J:78540)
• spleens of PHZ-and EPO-treated mutants are bigger and contain more cells than treated controls
(J:78540)
|
|
|
• the interfollicular space of the red pulp is filled with abnormally large and dysplastic megakaryocytes
• red pulp and subcapsulary space are filled with lymphocyte-sized cells resembling immature erythroid cells
|
|
|
• spleen contains 3 times more cells than wild-type
|
skeleton
|
|
• starting at 12 months of age, a progressive reduction of the space available in the bone marrow for hemopoietic cells due to the simultaneous increase of bone trabeculae and intracellular matrix
(J:78348)
• progressive accumulation of fibers in the intercellular space of the marrow; the fibers change from fine and diffuse reticulin fibers at 6 months of age to gross collagen fibers from 12 months on and almost completely fills the femoral cavity
(J:78348)
• bone marrow contains larger-than-normal red cells and apoptotic cells
(J:78540)
|
|
|
• myelofibrotic degeneration of the marrow and spleen with age; about 7 times more megakaryocytes in the bone marrow than controls
• expression of growth factor genes implicated in the development of myelofibrosis is increased in the marrow
• presence of tear-drop poikilocytes and progenitor cells in the blood, collagen fibers in the marrow and in the spleen and hemopoietic foci in the liver, all markers of myelofibrosis
|
|
|
• starting at 12 months of age, an increase of bone trabeculae is seen in the bone marrow
|
|
|
• in the oldest mice, increased osteogenesis eventually occludes the femoral cavity
|
liver/biliary system
|
|
• no sign of active hemopoiesis is seen in the liver of mutants after birth (1-12 months of age), however by 18 months of age, foci of hematopoiesis are seen in the liver parenchyma
|
mortality/aging
|
|
• most mutants die between 14 and 20 months of age, and only 9 survive past 20 months of age
|
|
|
• 9 of 178 mutants born alive die within the first 15 days of life
|
|
|
• only 30% of pregnancies induced result in viable pups
|
growth/size/body
|
|
• spleen size increases with age and at 15-20 months of age is due to an accumulation of collagen fibers
(J:78348)
• spleens are 2.5-fold larger
(J:78540)
• spleens of PHZ-and EPO-treated mutants are bigger and contain more cells than treated controls
(J:78540)
|
Analysis Tools