B6;129S7-Tbx1tm3Bld/Cnrm
| Status | Available to order |
| EMMA ID | EM:02135 |
| International strain name | B6;129S7-Tbx1tm3Bld/Cnrm |
| Alternative name | Tbx1Flox |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Tbx1tm3Bld, |
| Gene/Transgene symbol | Tbx1 |
Information from provider
| Provider | Antonio BALDINI |
| Provider affiliation | Institute of Genetics and Biophysics (IGB), National Research Council (CNR) |
| Genetic information | Exon 5 of the Tbx1 gene is modified so that is flanked by loxP sites. The insertion of the loxP sites does not affect the function of the gene. |
| Phenotypic information | There is no abnormal phenotype associated with this mutation, unless there is Cre-induced recombination. |
| References |
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Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- 22q11.2 deletion syndrome / Orphanet_567
Literature references
- Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract.;Xu Huansheng, Morishima Masae, Wylie John N, Schwartz Robert J, Bruneau Benoit G, Lindsay Elizabeth A, Baldini Antonio, ;2004;Development (Cambridge, England);131;3217-27; 15175244
- Tbx1 regulates population, proliferation and cell fate determination of otic epithelial cells.;Xu Huansheng, Viola Antonella, Zhang Zhen, Gerken Claudia P, Lindsay-Illingworth Elizabeth A, Baldini Antonio, ;2007;Developmental biology;302;670-82; 17074316
- Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion.;Xu Huansheng, Cerrato Fabiana, Baldini Antonio, ;2005;Development (Cambridge, England);132;4387-95; 16141220
- Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development.;Zhang Zhen, Huynh Tuong, Baldini Antonio, ;2006;Development (Cambridge, England);133;3587-95; 16914493
- Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development.;Zhang Zhen, Cerrato Fabiana, Xu Huansheng, Vitelli Francesca, Morishima Masae, Vincentz Joshua, Furuta Yasuhide, Ma Lijiang, Martin James F, Baldini Antonio, Lindsay Elizabeth, ;2005;Development (Cambridge, England);132;5307-15; 16284121
- A phenotypic rescue approach identifies lineage regionalization defects in a mouse model of DiGeorge syndrome.;Lania Gabriella, Franzese Monica, Adachi Noritaka, Bilio Marchesa, Flore Gemma, Russo Annalaura, D'Agostino Erika, Angelini Claudia, Kelly Robert G, Baldini Antonio, ;2022;Disease models & mechanisms;15;; 35946435
- Pax9 is required for cardiovascular development and interacts with Tbx1 in the pharyngeal endoderm to control 4th pharyngeal arch artery morphogenesis.;Phillips Helen M, Stothard Catherine A, Shaikh Qureshi Wasay M, Kousa Anastasia I, Briones-Leon J Alberto, Khasawneh Ramada R, O'Loughlin Chloe, Sanders Rachel, Mazzotta Silvia, Dodds Rebecca, Seidel Kerstin, Bates Timothy, Nakatomi Mitsushiro, Cockell Simon J, Schneider Jürgen E, Mohun Timothy J, Maehr René, Kist Ralf, Peters Heiko, Bamforth Simon D, ;2019;Development (Cambridge, England);146;; 31444215