Gata1^tm1Mym
Targeted Allele Detail

Summary

• Symbol: Gata1^tm1Mym
• Name: GATA binding protein 1; targeted mutation 1, Masayuki Yamamoto
• MGI ID: MGI:3038080
• Synonyms: GATA-1.05, GATA1.05, Gata^G1.05
• Gene: Gata1 Location: ChrX:7825504-7842844 bp, - strand Genetic Position: ChrX, 3.59 cM, cytoband A2
• Alliance: Gata1^tm1Mym page

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

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:40321
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted
• Mutation: Insertion
• Mutation details: In order to weaken activity of the erythroid-specific promoter, homologous recombination was used to insert a neo cassette into the intergenic region between a GATA motif known to positively regulate transcription and the first erythroid specific exon (IE). The GATA is located approximately 620 bp 5' to IE. RT-PCR showed that gene expression in mutant male embryos was less than 5% of the level of expression in wild-type embryos. (J:40321)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)

	Allelic Composition	Genetic Background	Cell Line(s)
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ht1  Disease Model	Gata1^tm1Mym/Gata1^+	involves: 129P2/OlaHsd
ht2	Gata1^tm1Mym/Gata1^+	involves: 129P2/OlaHsd * BALB/c
cx3  Disease Model	Gata1^tm1Mym/Gata1^tm1Mym Tg(Gata1*)#Mym/0	involves: 129P2/OlaHsd * C57BL/6 * DBA/2J
cx4  Disease Model	Gata1^tm1Mym/Y Tg(Gata1*)#Mym/0	involves: 129P2/OlaHsd * C57BL/6 * DBA/2J
cx5	Gata1^tm1Mym/Y Tg(Gata1)#Mym/0	involves: 129P2/OlaHsd * C57BL/6 * DBA/2J
cx6	Gata1^tm1Mym/Gata1^tm1Mym Tg(Gata1)#Mym/0	involves: 129P2/OlaHsd * C57BL/6 * DBA/2J
cx7  Disease Model	Gata1^tm1Mym/Y Tg(Gata1*V205G)1Mym/0	involves: C57BL/6 * DBA/2
ot8	Gata1^tm1Mym/Y	involves: 129P2/OlaHsd
ot9	Gata1^tm1Mym/Y	involves: 129P2/OlaHsd * BALB/c

Phenotypes:

Affected Systems	ht1	ht2	cx3	cx4	cx5	cx6	cx7	ot8	ot9
show or hide all annotated terms Sex:
cardiovascular system									√
absent vitelline blood vessels									√
cellular							√
abnormal megakaryocyte differentiation							√
embryo									√
absent vitelline blood vessels									√
decreased embryo size									√
pale yolk sac									√
abnormal embryonic erythropoiesis									√
growth/size/body	√						√		√
decreased embryo size									√
decreased fetal size							√
enlarged spleen	√
hematopoietic system	√	√	√	√	N	N	√		√
hematopoietic system phenotype					N	N
abnormal embryonic erythropoiesis									√
enlarged spleen	√
abnormal definitive hematopoiesis			√	√
extramedullary hematopoiesis	√
anemia	√	√	√	√					√
abnormal bone marrow cell morphology/development							√
abnormal megakaryocyte morphology	√		√	√			√
abnormal megakaryocyte differentiation							√
increased megakaryocyte cell number			√	√			√
decreased erythroid progenitor cell number			√	√					√
abnormal megakaryocyte progenitor cell morphology			√	√
abnormal proerythroblast morphology	√
abnormal erythrocyte morphology			√	√			√
abnormal erythropoiesis	√	√	√	√
abnormal stress erythropoiesis							√
decreased erythrocyte cell number			√	√
decreased hematocrit	√		√	√
decreased hemoglobin content			√	√
anisocytosis							√
abnormal platelet morphology			√	√			√
abnormal thrombopoiesis							√
thrombocytopenia	√						√
thrombocytosis			√	√
increased leukocyte cell number			√	√
abnormal mononuclear cell morphology							√
decreased spleen red pulp amount	√
decreased spleen white pulp amount	√
pale spleen	√
homeostasis/metabolism								√
abnormal iron level								√
immune system	√		√	√			√
enlarged spleen	√
abnormal thrombopoiesis							√
increased leukocyte cell number			√	√
abnormal mononuclear cell morphology							√
decreased spleen red pulp amount	√
decreased spleen white pulp amount	√
pale spleen	√
integument							√
pallor							√
liver/biliary system									√
pale liver									√
mortality/aging	√								√
decreased survivor rate	√
premature death	√
embryonic lethality during organogenesis, complete penetrance									√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	ht1	cx3	cx4	cx7
myelodysplastic syndrome IDs myelodysplastic syndrome       DOID:0050908 MESH:D009190 OMIM:614286 UMLS_CUI:C2713368 Close	√
thrombocytopenia IDs thrombocytopenia       DOID:1588 ICD10CM:D69.6 ICD9CM:287.5 MESH:D013921 OMIM:188000 OMIM:273900 OMIM:300367 OMIM:313900 OMIM:612004 ORDO:852 UMLS_CUI:C0040034 Close				√
transient myeloproliferative syndrome IDs transient myeloproliferative syndrome       DOID:0060888 ICD10CM:D47.7 OMIM:159595 ORDO:420611 Close		√	√

Expression

In Mice Carrying this Mutation:	25 assay results
In Structures Affected by this Mutation:	8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Gata1 Mutation: 45 strains or lines available

References

• Original: J:40321 Takahashi S, et al., Arrest in primitive erythroid cell development caused by promoter-specific disruption of the GATA-1 gene. J Biol Chem. 1997 May 9;272(19):12611-5
• All: 17 reference(s)