MGI phenotypes (allele matching)
- abnormal aortic arch morphology / MGI
B6;129S7-Tbx1tm4(cre/Esr1*)Bld/Cnrm
| Status | Available to order |
| EMMA ID | EM:02404 |
| International strain name | B6;129S7-Tbx1tm4(cre/Esr1*)Bld/Cnrm |
| Alternative name | Tbx1mcm |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Tbx1tm4(cre/Esr1*)Bld, |
| Gene/Transgene symbol | Tbx1 |
Information from provider
| Provider | Antonio BALDINI |
| Provider affiliation | institute of biosciences and technologies, Texas A&M health science center |
| Genetic information | A targeting cassette containing IRES, mer-cre-mer, PGKneo was inserted into exon 5 of the endogenous Tbx1 gene in ES cells. Tbx1mcm is a null allele. |
| Phenotypic information | Same as Tbx1 germline mutants, i.e., aortic arch defects, some of which are lethal at birth. Penetrance of the cardiovascular phenotype varies with strain. |
| Breeding history | ~50:50 C57BL/6 and 129SvEv. |
| 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