B6;129P2-Gata1tm1(StrepII-FKBPV)Robe/H

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EMMA IDEM:15252
Citation informationRRID:IMSR_EM:15252 

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International strain nameB6;129P2-Gata1tm1(StrepII-FKBPV)Robe/H
Alternative nameB6;129P-Gata1tm1(StrepII-FKBPV)DRHi
Strain typeTargeted Mutant Strains : Knock-in
Allele/Transgene symbolGata1tm1(StrepII-FKBPV)Robe
Gene/Transgene symbolGata1

Information from provider

ProviderRobert Beagrie
Provider affiliationNuffield Department of Medicine, University of Oxford
Additional ownerDana Farber Cancer Institute
Genetic informationMice carry a knock-in of a tandem Strep-II tag and FKBP-V (F36V mutant of FK506-binding protein FKBP12) at the C-terminus of the endogenous Gata1 gene. The FKBP-V tag acts as a degron and allows Gata1 protein (a master transcription factor regulating red blood cell development) to be degraded on exposure to the compound dTAG-13, causing a complete block of red blood cell differentiation at the colony-forming unit-erythroid (CFU-E) stage. In the absence of dTAG-13 Gata1 function is unaffected.
Phenotypic informationHomozygous:
Mice homozygous for the mutation develop normally, with no sign of anaemia or otherwise disrupted Gata1 function. When exposed to inducing agent (the heterobifunctional molecule dTAG-13) ex vivo, red blood cell progenitors homozygous for the mutation degrade 99% of Gata1 protein within 6 hours and the streptavidin epitope tag can no longer be detected bound to Gata1 sites across the genome. This degradation leads to a complete arrest of red blood cell differentiation at the CFU-E stage within 24 hours. The mutation would be expected to phenocopy the Gata1 null mouse (i.e. embryonic lethality at around e11.5) were animals to be treated with inducing agent in vivo, but we have not tested this.

Heterozygous:
Gata1 is located on the X chromosome, therefore all male mice are hemizygous and their phenotype is identical to that of homozygous female mice (see above). Female heterozygotes display a similar phenotype except that only 50% of Gata1 protein is degraded in the presence of dTAG-13 (i.e. the tagged protein only) and the differentiation arrest at the CFU-E stage is only partial.
Breeding historyKnock-in generated in E14TG2a (129P2 background) ES cells. Chimera was backcrossed to C57BL/6, F1 offspring were backcrossed to C57BL/6 again and then intercrossed for 3 generations.
ReferencesNone available
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (gene matching)
  • decreased hematocrit / MGI
  • abnormal leukocyte cell number / MGI
  • increased neutrophil cell number / MGI
  • abnormal thrombopoiesis / MGI
  • abnormal megakaryocyte differentiation / MGI
  • extramedullary hematopoiesis / MGI
  • abnormal erythropoiesis / MGI
  • decreased bone marrow cell number / MGI
  • abnormal liver morphology / MGI
  • liver hypoplasia / MGI
  • pale liver / MGI
  • abnormal spleen morphology / MGI
  • enlarged spleen / MGI
  • abnormal hematopoietic system physiology / MGI
  • anemia / MGI
  • abnormal myelopoiesis / MGI
  • pale yolk sac / MGI
  • autoimmune response / MGI
  • premature death / MGI
  • abnormal definitive hematopoiesis / MGI
  • abnormal respiratory system physiology / MGI
  • no abnormal phenotype detected / MGI
  • abnormal bronchiole morphology / MGI
  • abnormal spleen red pulp morphology / MGI
  • abnormal bone marrow morphology / MGI
  • abnormal megakaryocyte progenitor cell morphology / MGI
  • abnormal proerythroblast morphology / MGI
  • abnormal megakaryocyte morphology / MGI
  • abnormal hematocrit / MGI
  • poikilocytosis / MGI
  • decreased erythrocyte cell number / MGI
  • increased erythroid progenitor cell number / MGI
  • thrombocytopenia / MGI
  • abnormal platelet shape / MGI
  • pallor / MGI
  • polyploidy / MGI
  • increased spleen weight / MGI
  • increased osteoclast cell number / MGI
  • increased osteoblast cell number / MGI
  • decreased eosinophil cell number / MGI
  • decreased lymphocyte cell number / MGI
  • polychromatophilia / MGI
  • respiratory system phenotype / MGI
  • hematopoietic system phenotype / MGI
  • abnormal skin physiology / MGI
  • abnormal common myeloid progenitor cell morphology / MGI
  • increased megakaryocyte cell number / MGI
  • decreased spleen red pulp amount / MGI
  • decreased spleen white pulp amount / MGI
  • decreased circulating interleukin-4 level / MGI
  • decreased circulating interleukin-13 level / MGI
  • decreased survivor rate / MGI
  • abnormal erythroid progenitor cell morphology / MGI
  • abnormal physiological response to xenobiotic / MGI
  • decreased erythroid progenitor cell number / MGI
  • pale spleen / MGI
  • increased splenocyte number / MGI
  • abnormal hemostasis / MGI
  • increased number of Howell-Jolly bodies / MGI
  • increased bone trabecula number / MGI
  • increased trabecular bone volume / MGI
  • increased compact bone volume / MGI
  • postnatal lethality, incomplete penetrance / MGI
  • prenatal lethality, incomplete penetrance / MGI
  • embryonic lethality during organogenesis, incomplete penetrance / MGI
  • lethality throughout fetal growth and development, incomplete penetrance / MGI
  • myelofibrosis / MGI
  • increased bone ossification / MGI

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