| Status | Available to order |
| EMMA ID | EM:11399 |
| International strain name | B6.129S7-Tbx1tm6(cre)Bld/Cnrm |
| Alternative name | Tbx1Cre |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Tbx1tm6(cre)Bld |
| Gene/Transgene symbol | Tbx1 |
| Provider | Antonio Baldini |
| Provider affiliation | Istituto di Genetica e Biofisica CNR |
| Genetic information | The allele was generated by knocking in a cre-encoding sequence into exon 5 (9-exons gene model) of the Tbx1 gene using homologous recombination in ES cells (AB2.2). Described in the publication: A fate map of Tbx1 expressing cells reveals heterogeneity in the second cardiac field. Huynh T, Chen L, Terrell P, Baldini A. Genesis. 2007 Jul;45(7):470-5. |
| Phenotypic information | Homozygous:Homozygous animals die at birth because of lethal heart defects and other congenital anomalies. The cre allele is null, therefore, the phenotype is identical to the one described in the literature for Tbx1 mutants, e.g.: Vitelli F, Morishima M, Taddei I, Lindsay EA, Baldini A. Hum. Mol. Genet. 11:915-922, 2002.Heterozygous:Cre knock-in inactivates the Tbx1 gene. Tbx1 is haploinsufficient. Heterozygous animals have defects including aortic arch remodelling. Depending upon genetic background, the heterozygous mutation may cause perinatal lethality in 3-6% of the animals. |
| Breeding history | The stock of this line is maintained at the heterozygous state by crossing males with C57BL/6 females, in a conventional clean facility. |
| References |
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| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Orphanet associated rare diseases, based on orthologous gene matching
