B6.129S7-Tbx1tm6(cre)Bld/Cnrm
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 |
Information from provider
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 |
|
Homozygous fertile | no |
Homozygous viable | no |
Homozygous matings required | no |
Immunocompromised | no |
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
MGI phenotypes (allele matching)
Literature references
- A fate map of Tbx1 expressing cells reveals heterogeneity in the second cardiac field.;Huynh Tuong, Chen Li, Terrell Phillip, Baldini Antonio, ;2007;Genesis (New York, N.Y. : 2000);45;470-5; 17610275
- 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
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).