IMPC phenotypes (gene matching)
129-Tgfbr2tm1Roes/RoesH
| Status | Available to order |
| EMMA ID | EM:00174 |
| Citation information | RRID:IMSR_EM:00174 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | 129-Tgfbr2tm1Roes/RoesH |
| Alternative name | TbRIIfl |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Tgfbr2tm1Roes |
| Gene/Transgene symbol | Tgfbr2 |
Information from provider
| Provider | Jurgen Roes |
| Provider affiliation | Windeyer Institute of Medical Sciences, University College London |
| Genetic information | Exon 3 of the TGF beta-receptor II (Tgfbr2) gene is flanked by loxP sites |
| Phenotypic information | This stock carries a floxed TGF beta-receptor II gene and is without phenotype. Excision of the floxed region of the TGF beta-receptor II gene leads to several hyper-responsive anomalies in B-cell function which are accompanied by a virtually complete IgA deficiency. This stock may have a role in studies looking at B-cell homeostasis and antigen responsiveness. |
| References |
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Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Marfan syndrome type 2 / Orphanet_284973
- Familial thoracic aortic aneurysm and aortic dissection / Orphanet_91387
- Loeys-Dietz syndrome / Orphanet_60030
MGI phenotypes (gene matching)
- kyphosis / MGI
- abnormal erythropoiesis / MGI
- enlarged pericardium / MGI
- decreased embryo size / MGI
- absent vitelline blood vessels / MGI
- pale yolk sac / MGI
- neoplasm / MGI
- premature death / MGI
- no abnormal phenotype detected / MGI
- abnormal aorta elastic fiber morphology / MGI
- abnormal vitelline vasculature morphology / MGI
- abnormal embryonic hematopoiesis / MGI
- increased hepatocyte proliferation / MGI
- embryonic growth retardation / MGI
- aortic dissection / MGI
- abnormal coronary artery morphology / MGI
- abnormal aortic arch morphology / MGI
- increased incidence of tumors by chemical induction / MGI
- hemothorax / MGI
- hemopericardium / MGI
- increased fatty acid level / MGI
- abnormal fat pad morphology / MGI
- increased total body fat amount / MGI
- ascending aorta aneurysm / MGI
- increased aorta wall thickness / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- preweaning lethality, complete penetrance / MGI
- abnormal aorta bulb morphology / MGI
- dilated aorta bulb / MGI
Literature references
- TGF-beta receptor controls B cell responsiveness and induction of IgA in vivo.;Cazac B B, Roes J, ;2000;Immunity;13;443-51; 11070163