All Phenotypes Gata1<tm1Mym> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Gata1^tm1Mym
targeted mutation 1, Masayuki Yamamoto
MGI:3038080

Summary

9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Gata1^tm1Mym/Gata1⁺	involves: 129P2/OlaHsd	MGI:3038120
ht2	Gata1^tm1Mym/Gata1⁺	involves: 129P2/OlaHsd * BALB/c	MGI:3038111
cx3	Gata1^tm1Mym/Gata1^tm1Mym Tg(Gata1*)#Mym/0	involves: 129P2/OlaHsd * C57BL/6 * DBA/2J	MGI:4450928
cx4	Gata1^tm1Mym/Y Tg(Gata1*)#Mym/0	involves: 129P2/OlaHsd * C57BL/6 * DBA/2J	MGI:4450929
cx5	Gata1^tm1Mym/Y Tg(Gata1)#Mym/0	involves: 129P2/OlaHsd * C57BL/6 * DBA/2J	MGI:4450930
cx6	Gata1^tm1Mym/Gata1^tm1Mym Tg(Gata1)#Mym/0	involves: 129P2/OlaHsd * C57BL/6 * DBA/2J	MGI:4450931
cx7	Gata1^tm1Mym/Y Tg(Gata1*V205G)1Mym/0	involves: C57BL/6 * DBA/2	MGI:5295642
ot8	Gata1^tm1Mym/Y	involves: 129P2/OlaHsd	MGI:4415293
ot9	Gata1^tm1Mym/Y	involves: 129P2/OlaHsd * BALB/c	MGI:3038110

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 (44 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 (44 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^tm1Mym/Gata1^tm1Mym Tg(Gata1*)#Mym/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1^tm1Mym mutation (0 available); any Gata1 mutation (44 available)
Tg(Gata1*)#Mym mutation (0 available)

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

hematopoietic system

abnormal definitive hematopoiesis ( J:158252 )

• in both the erythroid and megakaryocytic lineages

anemia ( J:158252 )

• at E13.5, mice exhibit anemia unlike Gata1^tm1Mym/Gata1^tm1Mym Tg(Gata1)#Mym control mice

• however, mice recover from anemia by E15.5

abnormal megakaryocyte morphology ( J:158252 )

• average ploidy is reduced compared to in Gata1^tm1Mym/Gata1^tm1Mym Tg(Gata1)#Mym control mice

increased megakaryocyte cell number ( J:158252 )

• at P0 and P5, the number of megakaryocytes in the liver is increased compared to in Gata1^tm1Mym/Gata1^tm1Mym Tg(Gata1)#Mym control mice

• however, between P0 and P5 the number of megakaryocytes is normal in the spleen

decreased erythroid progenitor cell number ( J:158252 )

• at E18.5

abnormal megakaryocyte progenitor cell morphology ( J:158252 )

• at E12.5 and E15.5, mice exhibit hyperproliferative megakaryocyte progenitors compared with Gata1^tm1Mym/Gata1^tm1Mym Tg(Gata1)#Mym control mice

• cultured fetal livers from E15.5 and E18.5 mice produce more numerous smaller cells in a CFU-Mk assay compared to samples from fetal livers of control mice

• however, the numbers of CFU-Mk in E18.5 fetal livers is normal

abnormal erythrocyte morphology ( J:158252 )

• at P0, abnormal red blood cells are found in blood smear including ones with nucleus and denatured cells unlike in Gata1^tm1Mym/Gata1^tm1Mym Tg(Gata1)#Mym control mice

abnormal erythropoiesis ( J:158252 )

• at E13.5, erythroid differentiation as assessed by CD71 expression is severely disrupted compared to in Gata1^tm1Mym/Gata1^tm1Mym Tg(Gata1)#Mym control mice

• however, erythroid differentiation is normal by E15.5

decreased erythrocyte cell number ( J:158252 )

• at P0 and P21

decreased hematocrit ( J:158252 )

• at P0

decreased hemoglobin content ( J:158252 )

• at P0

abnormal platelet morphology ( J:158252 )

• megathrombocytes and blast-like cells with prominent Golgi area and poorly developed cytoplasmic granulation are observed unlike in Gata1^tm1Mym/Gata1^tm1Mym Tg(Gata1)#Mym control mice

thrombocytosis ( J:158252 )

• at P0 and P5

increased leukocyte cell number ( J:158252 )

• at P0 but not P5

immune system

increased leukocyte cell number ( J:158252 )

• at P0 but not P5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
transient myeloproliferative syndrome		DOID:0060888	OMIM:159595	J:158252

Allelic Composition	Gata1^tm1Mym/Y Tg(Gata1*)#Mym/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1^tm1Mym mutation (0 available); any Gata1 mutation (44 available)
Tg(Gata1*)#Mym mutation (0 available)

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

hematopoietic system

abnormal definitive hematopoiesis ( J:158252 )

• in both the erythroid and megakaryocytic lineages

anemia ( J:158252 )

• at E13.5, mice exhibit anemia unlike Gata1^tm1Mym/Gata1^tm1Mym Tg(Gata1)#Mym control mice

• however, mice recover from anemia by E15.5

abnormal megakaryocyte morphology ( J:158252 )

• average ploidy is reduced compared to in Gata1^tm1Mym/Gata1^tm1Mym Tg(Gata1)#Mym control mice

increased megakaryocyte cell number ( J:158252 )

• at P0 and P5, the number of megakaryocytes in the liver is increased compared to in Gata1^tm1Mym/Gata1^tm1Mym Tg(Gata1)#Mym control mice

• however, between P0 and P5 the number of megakaryocytes is normal in the spleen

decreased erythroid progenitor cell number ( J:158252 )

• at E18.5

abnormal megakaryocyte progenitor cell morphology ( J:158252 )

• at E12.5 and E15.5, mice exhibit hyperproliferative megakaryocyte progenitors compared with Gata1^tm1Mym/Gata1^tm1Mym Tg(Gata1)#Mym control mice

• cultured fetal livers from E15.5 and E18.5 mice produce more numerous smaller cells in a CFU-Mk assay compared to samples from fetal livers of control mice

• however, the numbers of CFU-Mk in E18.5 fetal livers is normal

abnormal erythrocyte morphology ( J:158252 )

• at P0, abnormal red blood cells are found in blood smear including ones with nucleus and denatured cells unlike in Gata1^tm1Mym/Gata1^tm1Mym Tg(Gata1)#Mym control mice

abnormal erythropoiesis ( J:158252 )

• at E13.5, erythroid differentiation as assessed by CD71 expression is severely disrupted compared to in Gata1^tm1Mym/Gata1^tm1Mym Tg(Gata1)#Mym control mice

• however, erythroid differentiation is normal by E15.5

decreased erythrocyte cell number ( J:158252 )

• at P0 and P21

decreased hematocrit ( J:158252 )

• at P0

decreased hemoglobin content ( J:158252 )

• at P0

abnormal platelet morphology ( J:158252 )

• megathrombocytes and blast-like cells with prominent Golgi area and poorly developed cytoplasmic granulation are observed unlike in Gata1^tm1Mym/Gata1^tm1Mym Tg(Gata1)#Mym control mice

thrombocytosis ( J:158252 )

• at P0 and P5

increased leukocyte cell number ( J:158252 )

• at P0 but not P5

immune system

increased leukocyte cell number ( J:158252 )

• at P0 but not P5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
transient myeloproliferative syndrome		DOID:0060888	OMIM:159595	J:158252

Allelic Composition	Gata1^tm1Mym/Y Tg(Gata1)#Mym/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1^tm1Mym mutation (0 available); any Gata1 mutation (44 available)
Tg(Gata1)#Mym mutation (0 available)

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

hematopoietic system

hematopoietic system phenotype ( J:158252 )

N	• unlike Gata1^tm1Mym homozygotes, mice do not exhibit anemia • mice exhibit normal numbers of megakaryocytes at P5

Allelic Composition	Gata1^tm1Mym/Gata1^tm1Mym Tg(Gata1)#Mym/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * DBA/2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1^tm1Mym mutation (0 available); any Gata1 mutation (44 available)
Tg(Gata1)#Mym mutation (0 available)

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

hematopoietic system

hematopoietic system phenotype ( J:158252 )

N	• unlike Gata1^tm1Mym homozygotes, mice do not exhibit anemia • mice exhibit normal numbers of megakaryocytes at P5

Allelic Composition	Gata1^tm1Mym/Y Tg(Gata1*V205G)1Mym/0
Genetic Background	involves: C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1^tm1Mym mutation (0 available); any Gata1 mutation (44 available)
Tg(Gata1*V205G)1Mym mutation (0 available)

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

growth/size/body

decreased fetal size ( J:89054 )

• E15.5 fetuses are sometimes small in size

hematopoietic system

abnormal bone marrow cell morphology/development ( J:89054 )

• megakaryopoiesis is severerly affected

• analysis of in vitro colony formation from mononuclear ells indicates that hematopoietic progenitor formation is normal, however AChE+ cells of CFU-Megs are larger indicating dysregulation of megakaryopoiesis

abnormal megakaryocyte morphology ( J:89054 )

• megakaryocytes are larger in mutant fetuses than in wild-type

• megakaryocytes in the spleen are larger than in wild-type spleen

• megakaryocytes contain a large volume of cytoplasm with a paucity of cytoplasmic organelles

• demarcation membrane is underdeveloped in megakaryocytes

abnormal megakaryocyte differentiation ( J:89054 )

• impaired megakaryocyte differentiation

• mutants exhibit dysregulated proliferation and impaired cytoplasmic maturation of megakaryocytes in adulthood

increased megakaryocyte cell number ( J:89054 )

• number of megakaryocytes is increased in E17.5 mutant livers and in hematopoietic tissues of adults

abnormal erythrocyte morphology ( J:89054 )

• peripheral erythrocytes are morphologically abnormal

• in fetuses, circulation of nucleated erythroid cells is often observed whereas in wild-type mice, erythrocytes are uniformly enucleated

• enucleated erythroid cells are rarely seen in the fetal liver

abnormal stress erythropoiesis ( J:89054 )

• mutants require longer time (11 days versus 7 days for wild-type mice) to recover from PHZ-induced anemia, indicating attenuated stress erythropoiesis

anisocytosis ( J:89054 )

abnormal platelet morphology ( J:89054 )

• gross morphologic abnormalities of platelets are seen

abnormal thrombopoiesis ( J:89054 )

• proplatelet formation is impaired in the bone marrow cells of mutants

thrombocytopenia ( J:89054 )

• mutants exhibit severe thrombocytopenia without anemia

abnormal mononuclear cell morphology ( J:89054 )

• mutants exhibit an increased number of large mononuclear cells in the bone marrow

immune system

abnormal thrombopoiesis ( J:89054 )

• proplatelet formation is impaired in the bone marrow cells of mutants

abnormal mononuclear cell morphology ( J:89054 )

• mutants exhibit an increased number of large mononuclear cells in the bone marrow

integument

pallor ( J:89054 )

• E15.5 fetuses appear pale

cellular

abnormal megakaryocyte differentiation ( J:89054 )

• impaired megakaryocyte differentiation

• mutants exhibit dysregulated proliferation and impaired cytoplasmic maturation of megakaryocytes in adulthood

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
thrombocytopenia		DOID:1588	OMIM:188000 OMIM:273900 OMIM:300367 OMIM:313900 OMIM:612004	J:89054

Allelic Composition	Gata1^tm1Mym/Y
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 (44 available)

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

homeostasis/metabolism

abnormal iron level ( J:58508 )

• mutants exhibit diffuse cytoplasmic iron accumulation in circulating blood cells at E10.5

Allelic Composition	Gata1^tm1Mym/Y
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 (44 available)

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

Gata1^tm1Mym/Y embryos are smaller and anemic

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:40321 )

• embryonic lethality is first detected at E11.5 and no live males seen by E12.5

hematopoietic system

abnormal embryonic erythropoiesis ( J:40321 )

• impaired primitive erythropoiesis

anemia ( J:40321 )

decreased erythroid progenitor cell number ( J:40321 )

• decrease in the number of erythroid cells and CFU-E in livers

embryo

absent vitelline blood vessels ( J:40321 )

• yolk sacs contain almost no blood vessels at E9.5

decreased embryo size ( J:40321 )

pale yolk sac ( J:40321 )

abnormal embryonic erythropoiesis ( J:40321 )

• impaired primitive erythropoiesis

growth/size/body

decreased embryo size ( J:40321 )

liver/biliary system

pale liver ( J:40321 )

cardiovascular system

absent vitelline blood vessels ( J:40321 )

• yolk sacs contain almost no blood vessels at E9.5

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