- 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
B6(Cg)-Gata1tm(avidin) Tg(Hnrnpa2b1/Cbx1-birA)1Jstr/Flmg
Status | Available to order |
EMMA ID | EM:15433 |
International strain name | B6(Cg)-Gata1tm(avidin) Tg(Hnrnpa2b1/Cbx1-birA)1Jstr/Flmg |
Alternative name | AviGata1short/BirA |
Strain type | Targeted Mutant Strains : Knock-in |
Allele/Transgene symbol | Gata1tm(avidin), Tg(Hnrnpa2b1/Cbx1-birA)1Jstr |
Gene/Transgene symbol | Gata1, Tg(Hnrnpa2b1/Cbx1-birA)1Jstr |
Information from provider
Provider | John Strouboulis |
Provider affiliation | School of Cancer and Pharmaceutical Sciences, King's College London |
Additional owner | Professor Paresh Vyas, Oxford University, Radcliffe Department of Medicine, John Radcliffe Hospital, Headington, Oxford, United Kingdom |
Genetic information | Mice carry a targeted X-linked Gata1 gene mutation such that the second exon is removed and replaced by an in-frame fusion of the short (14 aa) biotinylatable avidin tag. In this way, the mice express an avidin-tagged, N-terminally truncated mutant of GATA1, called GATA1short. The mouse strain is also transgenic for the BirA bacterial biotin ligase under the control of the hnRNPA2 promoter (see description under EMMA strain ID EM:09008). As a result, this mouse strain expresses in vivo biotinylated GATA1short protein in tissues where the Gata1 gene is normally active (mainly erythroid cells and megakaryocytes). |
Phenotypic information | Homozygous:Embryos homozygous for the targeted GATA1short deletion present with a transient expansion of megakaryocytes with impaired erythropoiesis around E11.5-E14.5. Impaired erythropoiesis results in transient anemia which is lethal in utero for 10-15% of the embryos (mostly male; Gata1 is an X-linked gene). In adult mice, bone marrow erythropoiesis is perturbed with delayed maturation of erythroid cells. A slightly enlarged spleen with erythropoietic activity. Overall, a mild phenotype. No phenotype observed in mice transgenic for the 3xHA BirA/hnRNPA2-CBX transgene.Heterozygous:None. For male mice, see above. |
Breeding history | This mouse strain has been continuously bred for the last 8 years or so. |
References |
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Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | B.S.R.C. Alexander Fleming, Vari, Greece |
Animals used for archiving | wild-type C57BL/6J |
Stage of embryos | Morula |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Acute megakaryoblastic leukemia in Down syndrome / Orphanet_99887
- Transient myeloproliferative syndrome / Orphanet_420611
- Blackfan-Diamond anemia / Orphanet_124
- X-linked dyserythropoietic anemia with abnormal platelets and neutropenia / Orphanet_363727
- Beta-thalassemia-X-linked thrombocytopenia syndrome / Orphanet_231393
- Congenital erythropoietic porphyria / Orphanet_79277
- Thrombocytopenia with congenital dyserythropoietic anemia / Orphanet_67044
MGI phenotypes (gene matching)
Literature references
- Oncogenic Gata1 causes stage-specific megakaryocyte differentiation delay.;Juban Gaëtan, Sakakini Nathalie, Chagraoui Hedia, Cruz Hernandez David, Cheng Qian, Soady Kelly, Stoilova Bilyana, Garnett Catherine, Waithe Dominic, Otto Georg, Doondeea Jessica, Usukhbayar Batchimeg, Karkoulia Elena, Alexiou Maria, Strouboulis John, Morrissey Edward, Roberts Irene, Porcher Catherine, Vyas Paresh, ;2021;Haematologica;106;1106-1119; 32527952
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