All Phenotypes Gata1<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Gata1⁺
wild type
MGI:2177554

Summary

10 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Gata1^Plt13/Gata1⁺	BALB/c-Gata1^Plt13	MGI:3688516
ht2	Gata1^tm1Mym/Gata1⁺	involves: 129P2/OlaHsd	MGI:3038120
ht3	Gata1^tm1Mym/Gata1⁺	involves: 129P2/OlaHsd * BALB/c	MGI:3038111
ht4	Gata1^tm2Sho/Gata1⁺	involves: 129S4/SvJae * C57BL/6	MGI:4415825
ht5	Gata1^tm1Sho/Gata1⁺	involves: 129S4/SvJae * C57BL/6	MGI:2177552
ht6	Gata1^{tm5(GATA3)Sho}/Gata1⁺	involves: 129S4/SvJae * C57BL/6	MGI:3820409
ht7	Gata1^tm2.1Sho/Gata1⁺	involves: 129S4/SvJae * C57BL/6	MGI:4415827
cn8	Gata1^tm1Phi/Gata1⁺ Tg(HBB-cre)1Phi/0	involves: FVB	MGI:3579124
cn9	Gata1^tm1Phi/Gata1⁺ Tg(HBB-cre)1Phi/0 Tg(HBB-Gata1)G4Phi/0	involves: FVB	MGI:3579119
cx10	Gata1^tm1Phi/Gata1⁺ Tg(HBB-Gata1)G4Phi/0	involves: FVB	MGI:3579126

Allelic Composition	Gata1^Plt13/Gata1⁺
Genetic Background	BALB/c-Gata1^Plt13

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1^Plt13 mutation (0 available); any Gata1 mutation (46 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Gata1^Plt13/Gata1⁺ mice exhibit megakaryocytosis and abnormal megakaryocyte maturation.

hematopoietic system

enlarged spleen ( J:113720 )

• splenomegaly in mutants is associated with the extramedullary hematopoiesis

increased spleen weight ( J:113720 )

• in mutants spleen weight is 172 mg vs 106 mg in wild-type females

abnormal myelopoiesis ( J:113720 )

• spleen cell cultures show elevated numbers of granulocyte and macrophage progenitor cells

abnormal thrombopoiesis ( J:113720 )

• mutant megakaryocytes in female heterozygotes make up 80-90% of total majority of megakaryocytes do not express either N- (labels wild-type) or C-terminal epitopes of Gata1

• colony numbers are elevated in spleen and feral liver, but colony size is unaffected

extramedullary hematopoiesis ( J:113720 )

• megakaryocyte progenitor cell levels are elevated in the spleen and feral liver

abnormal megakaryocyte morphology ( J:113720 )

• majority of megakaryocytes display abnormal morphology with hyperchromatic nuclei surrounded by sparse areas of cytoplasm

• megakaryocytes contain large clumps of membrane or lack demarcation membrane system entirely

increased megakaryocyte cell number ( J:113720 )

• spleen and bone marrow show increased numbers of megakaryocytes with small numbers of single megarkaryocytes in liver and lungs of adults

abnormal megakaryocyte progenitor cell morphology ( J:113720 )

• megakaryocyte progenitor cell levels are elevated in the spleen and fetal liver

• in bone marrow there is a reduction in megakaryocyte progenitors compared to wild-type

thrombocytopenia ( J:113720 )

• female adult heterozygotes show a 60% reduction in circulating platelet number compared to wild-type

immune system

enlarged spleen ( J:113720 )

• splenomegaly in mutants is associated with the extramedullary hematopoiesis

increased spleen weight ( J:113720 )

• in mutants spleen weight is 172 mg vs 106 mg in wild-type females

abnormal myelopoiesis ( J:113720 )

• spleen cell cultures show elevated numbers of granulocyte and macrophage progenitor cells

abnormal thrombopoiesis ( J:113720 )

• mutant megakaryocytes in female heterozygotes make up 80-90% of total majority of megakaryocytes do not express either N- (labels wild-type) or C-terminal epitopes of Gata1

• colony numbers are elevated in spleen and feral liver, but colony size is unaffected

cellular

polyploidy ( J:113720 )

• bone marrow megakaryocytes show DNA ploidy of 32N compared to 16N in wild-type, with abundant megakaryocytes having DNA content of 64N or 128N

growth/size/body

enlarged spleen ( J:113720 )

• splenomegaly in mutants is associated with the extramedullary hematopoiesis

increased spleen weight ( J:113720 )

• in mutants spleen weight is 172 mg vs 106 mg in wild-type females

Allelic Composition	Gata1^tm1Mym/Gata1⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1^tm1Mym mutation (0 available); any Gata1 mutation (46 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

decreased survivor rate ( J:88685 )

• more than half of females die within 7 months of birth

premature death ( J:88685 )

• more than 50% of females die within 7 months of birth

hematopoietic system

enlarged spleen ( J:88685 )

• varying degrees of splenomegaly, with an accumulation of proerythroblasts and megakaryocytes

abnormal erythropoiesis ( J:88685 )

extramedullary hematopoiesis ( J:88685 )

• ectopic liver hematopoiesis

anemia ( J:88685 )

• variable severity

abnormal megakaryocyte morphology ( J:88685 )

• mutants with severe splenomegaly that die spontaneously exhibit a diminished number of megakaryocytes in the enlarged spleens, however mutants with moderate splenomegaly, exhibit massive accumulation of megakaryocytes in the spleen

abnormal proerythroblast morphology ( J:88685 )

• massive accumulation of proerythroblasts in the spleen, resulting in almost no white pulp and only residual visible red pulp

• high numbers of proerythroblasts are seen in the peripheral blood of mice with severe anemia

decreased hematocrit ( J:88685 )

thrombocytopenia ( J:88685 )

decreased spleen red pulp amount ( J:88685 )

• only residual red pulp due to massive accumulation of proerythroblasts in the spleen

decreased spleen white pulp amount ( J:88685 )

• almost no white pulp due to massive accumulation of proerythroblasts in the spleen

pale spleen ( J:88685 )

immune system

enlarged spleen ( J:88685 )

• varying degrees of splenomegaly, with an accumulation of proerythroblasts and megakaryocytes

decreased spleen red pulp amount ( J:88685 )

• only residual red pulp due to massive accumulation of proerythroblasts in the spleen

decreased spleen white pulp amount ( J:88685 )

• almost no white pulp due to massive accumulation of proerythroblasts in the spleen

pale spleen ( J:88685 )

growth/size/body

enlarged spleen ( J:88685 )

• varying degrees of splenomegaly, with an accumulation of proerythroblasts and megakaryocytes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myelodysplastic syndrome		DOID:0050908	OMIM:614286	J:88685

Allelic Composition	Gata1^tm1Mym/Gata1⁺
Genetic Background	involves: 129P2/OlaHsd * BALB/c

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1^tm1Mym mutation (0 available); any Gata1 mutation (46 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Variable phenotypes of Gata1^tm1Mym/Gata1⁺ female embryos including anemia and reduced number of hematopoietic cells

hematopoietic system

abnormal erythropoiesis ( J:40321 )

• varying degrees of impairment observed during embryonic and neonatal stages

anemia ( J:40321 )

• some females exhibited severe anemia while others showed normal erytrhopoiesis, putatively due to random X-inactivation

Allelic Composition	Gata1^tm2Sho/Gata1⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1^tm2Sho mutation (0 available); any Gata1 mutation (46 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

hematopoietic system

abnormal megakaryocyte differentiation ( J:41605 )

increased megakaryocyte cell number ( J:41605 )

• 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

abnormal megakaryocyte progenitor cell morphology ( J:41605 )

• proliferation of megakaryocyte progenitors is greatly enhanced in fetal livers, presumably because of mosaicism resulting from random X inactivation

cellular

abnormal megakaryocyte differentiation ( J:41605 )

Allelic Composition	Gata1^tm1Sho/Gata1⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1^tm1Sho mutation (0 available); any Gata1 mutation (46 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

hematopoietic system

anemia ( J:36249 )

• anemia is present at birth and during the neonatal period, then decreases as the mice age

decreased eosinophil cell number ( J:88711 )

• in vitro culture of bone marrow cells demonstrates that cells lacking Gata1 expression can not make eosinophils

immune system

decreased eosinophil cell number ( J:88711 )

• in vitro culture of bone marrow cells demonstrates that cells lacking Gata1 expression can not make eosinophils

Allelic Composition	Gata1^{tm5(GATA3)Sho}/Gata1⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1^{tm5(GATA3)Sho} mutation (0 available); any Gata1 mutation (46 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

decreased survivor rate ( J:47295 )

• only two thirds of expected female mice survive into adulthood

lethality throughout fetal growth and development, incomplete penetrance ( J:47295 )

• one third of female mice die after E15.5 of severe anemia

embryonic lethality during organogenesis, incomplete penetrance ( J:47295 )

• some female mice die between E11.5 and E14.5

hematopoietic system

abnormal definitive hematopoiesis ( J:47295 )

• at E15.5, most female mice exhibit an increase in circulating immature hematopoitic cells compared to in wild-type mice

anemia ( J:47295 )

• one third of female mice die after E15.5 of severe anemia

decreased erythrocyte cell number ( J:47295 )

• at E15.5, most female mice exhibit reduced total erythroid cells compared to in wild-type mice

embryo

pale yolk sac ( J:47295 )

• at E14.6 and E16.5

integument

pallor ( J:47295 )

• beyond E15.5, most female mice look pale

Allelic Composition	Gata1^tm2.1Sho/Gata1⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1^tm2.1Sho mutation (1 available); any Gata1 mutation (46 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

hematopoietic system

abnormal megakaryocyte differentiation ( J:41605 )

increased megakaryocyte cell number ( J:41605 )

• large increase in megakaryocytes in hematopoietic tissues, presumably because of mosaicism resulting from random X inactivation

• however, normal numbers of platelets

abnormal megakaryocyte progenitor cell morphology ( J:41605 )

• proliferation of megakaryocyte progenitors is greatly enhanced in fetal livers, presumably because of mosaicism resulting from random X inactivation

cellular

abnormal megakaryocyte differentiation ( J:41605 )

Allelic Composition	Gata1^tm1Phi/Gata1⁺ Tg(HBB-cre)1Phi/0
Genetic Background	involves: FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1^tm1Phi mutation (0 available); any Gata1 mutation (46 available)
Tg(HBB-cre)1Phi mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

hematopoietic system

abnormal erythropoiesis ( J:98277 )

• definitive erythropoiesis is impaired

• at E14.0, fewer cells beyond the polychromatic erythroblast stage are seen are seen in the liver

• differentiation of erythroid progenitors in the hanging drop assay is intermediate between wild-type mice and males hemizygous for Tg(HBB-Gata1)G4Phi

anemia ( J:98277 )

• anemia is seen at E13.5 - E14.0; however, the rate of embryonic death is not increased compared to wild-type embryos

• anemia is transient (not present at birth), variable, and not as severe as in hemizygous males; however at E13.5, about 4% of the total circulating blood cells are immature erythroid precursors

Allelic Composition	Gata1^tm1Phi/Gata1⁺ Tg(HBB-cre)1Phi/0 Tg(HBB-Gata1)G4Phi/0
Genetic Background	involves: FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1^tm1Phi mutation (0 available); any Gata1 mutation (46 available)
Tg(HBB-cre)1Phi mutation (0 available)
Tg(HBB-Gata1)G4Phi mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:98277 )

• some mutant female embryos die by E13.5 - E14.0 and all are dead before birth similar to males hemizygous for Tg(HBB-Gata1)G4Phi

hematopoietic system

abnormal erythropoiesis ( J:98277 )

• definitive erythropoiesis is impaired with at least 2-fold more primitive cells compared to definitive cells present at E14.0

• compound mutant females are more severely affect compared to males hemizygous for Tg(HBB-Gata1)G4Phi and females heterozygous Gata1^tm1Phi and hemizygous for Tg(HBB-cre)1Phi

• at E14.0, fewer cells beyond the polychromatic erythroblast stage are seen are seen in the liver and in hanging drop assays erythroid progenitors fail to differentiate

anemia ( J:98277 )

• most surviving mutant female embryos are anemic at E13.5 - E14.0 similar to males hemizygous for Tg(HBB-Gata1)G4Phi

• at E13.5, about 4% of the total circulating blood cells are immature erythroid precursors

Allelic Composition	Gata1^tm1Phi/Gata1⁺ Tg(HBB-Gata1)G4Phi/0
Genetic Background	involves: FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1^tm1Phi mutation (0 available); any Gata1 mutation (46 available)
Tg(HBB-Gata1)G4Phi mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

hematopoietic system

abnormal erythropoiesis ( J:98277 )

• the onset of definitive erythropoiesis is delayed with a lower ratio of definitive to primitive erythroid cells at E13.5 and E14.0

• differentiation of erythroid progenitors in the hanging drop assay is intermediate between wild-type mice and males hemizygous for Tg(HBB-Gata1)G4Phi

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