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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Gata1Plt13
Plt13
MGI:3687875
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		Gata1Plt13/Gata1+ BALB/c-Gata1Plt13 MGI:3688516
ot2
 		Gata1Plt13/Y BALB/c-Gata1Plt13 MGI:3688515


Genotype
MGI:3688516
ht1
Allelic
Composition		 Gata1Plt13/Gata1+
Genetic
Background		 BALB/c-Gata1Plt13
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1Plt13 mutation (0 available); any Gata1 mutation (45 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Gata1Plt13/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




Genotype
MGI:3688515
ot2
Allelic
Composition		 Gata1Plt13/Y
Genetic
Background		 BALB/c-Gata1Plt13
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata1Plt13 mutation (0 available); any Gata1 mutation (45 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
embryonic lethality during organogenesis, incomplete penetrance ( J:113720 )
• Mendelian numbers of mutant male embryos are found at E10.5, are found at reduced numbers at 13.5 and no male mutants are born

growth/size/body
decreased embryo size ( J:113720 )
• male mutants are smaller than wild-type at E13.5

embryo
decreased embryo size ( J:113720 )
• male mutants are smaller than wild-type at E13.5
embryo tissue necrosis ( J:113720 )
• At E13.5, mutant embryos show regions of necrosis

hematopoietic system
anemia ( J:113720 )
• at E 13.5, mutants are pallid, consistent with severe anemia

liver/biliary system
small liver ( J:113720 )
• at E13.5, mutants have little or no fetal liver




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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory