B6(Cg)-Gata1tm(avi) Tg(Hnrnpa2b1/Cbx1-birA)1Jstr/Flmg
| Status | Under development - register interest |
| EMMA ID | EM:15433 |
| International strain name | B6(Cg)-Gata1tm(avi) Tg(Hnrnpa2b1/Cbx1-birA)1Jstr/Flmg |
| Alternative name | AviGata1short/BirA |
| Strain type | Transgenic Strains |
| Allele/Transgene symbol | hnRNPA2/CBX- 3xHABirA |
| Gene/Transgene symbol | hnRNPA2/CBX- 3xHABirA |
Information from provider
| Provider | John Strouboulis |
| Provider affiliation | School of Cancer and Pharmaceutical Sciences, King |
| 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 Avi tag. In this way, the mouse expresses an Avi-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 | None available |
| 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 |
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