- athymia / MGI
- abnormal cardiovascular system morphology / MGI
- persistent truncus arteriosis / MGI
- abnormal pharyngeal arch artery morphology / MGI
- ear lobe hypoplasia / MGI
- abnormal aortic arch morphology / MGI
- pharynx hypoplasia / MGI
- abnormal third pharyngeal arch morphology / MGI
- abnormal fourth pharyngeal arch morphology / MGI
- small second pharyngeal arch / MGI
- abnormal sixth pharyngeal arch morphology / MGI
- ventricular septal defect / MGI
- absent sixth pharyngeal arch artery / MGI
- absent third pharyngeal arch artery / MGI
- absent fourth pharyngeal arch artery / MGI
B6.129S7-Tbx1tm5Bld/Cnrm
Status | Available to order |
EMMA ID | EM:02136 |
International strain name | B6.129S7-Tbx1tm5Bld/Cnrm |
Alternative name | Tbx1Neo2 |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Tbx1tm5Bld, |
Gene/Transgene symbol | Tbx1 |
Information from provider
Provider | Antonio BALDINI |
Provider affiliation | Institute of Genetics and Biophysics (IGB), National Research Council (CNR) |
Genetic information | A loxP flanked PGKneo cassette was inserted into intron 5 of the Tbx1 gene. The cassette can be excised by Cre recombinase which reverts the gene to wild type form. |
Phenotypic information | 5-10% of heterozygous mutants die at birth because of heart defects (mainly interrupted aortic arch type B). Homozygous mutants die at birth. The cause of death has not been ascertained yet. Thymic, parathyroid and vascular defects. |
Breeding history | Backcrossed in C57BL/6 for 5 generations. |
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
MGI phenotypes (allele matching)
Literature references
- 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
- 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
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