- cleft palate / MGI
- athymia / MGI
- abnormal outer ear morphology / MGI
- persistent truncus arteriosis / MGI
- abnormal pharyngeal arch artery morphology / MGI
- decreased prepulse inhibition / MGI
- abnormal lateral semicircular canal morphology / MGI
- absent lateral semicircular canal / MGI
- postnatal lethality / MGI
- abnormal palate morphology / MGI
- abnormal aortic arch morphology / MGI
- retroesophageal right subclavian artery / MGI
- abnormal fourth pharyngeal arch artery morphology / MGI
- fourth pharyngeal arch artery hypoplasia / MGI
- abnormal blood vessel morphology / MGI
- abnormal artery development / MGI
- vascular smooth muscle hypoplasia / MGI
- abnormal vascular smooth muscle physiology / MGI
- absent semicircular canals / MGI
- abnormal middle ear morphology / MGI
- abnormal cranial nerve morphology / MGI
- abnormal trigeminal nerve morphology / MGI
- abnormal mandibular nerve branching / MGI
- abnormal glossopharyngeal nerve morphology / MGI
- abnormal vagus nerve morphology / MGI
- abnormal accessory nerve morphology / MGI
- abnormal glossopharyngeal ganglion morphology / MGI
- abnormal vagus ganglion morphology / MGI
- abnormal pharyngeal arch morphology / MGI
- abnormal neural crest cell migration / MGI
- absent cochlea / MGI
- abnormal vestibulocochlear ganglion morphology / MGI
- absent pharyngeal arches / MGI
- small otic vesicle / MGI
- absent inner ear vestibule / MGI
- pharynx hypoplasia / MGI
- fusion of glossopharyngeal and vagus nerve / MGI
- glossopharyngeal nerve hypoplasia / MGI
- abnormal dorsal aorta morphology / MGI
- abnormal pharyngeal pouch morphology / MGI
- abnormal fetal atrioventricular canal morphology / MGI
- absent inner ear / MGI
- small second pharyngeal arch / MGI
- cleft secondary palate / MGI
- perimembraneous ventricular septal defect / MGI
- abnormal truncus arteriosus septation / MGI
- abnormal conotruncus morphology / MGI
- abnormal conotruncus septation / MGI
- absent sixth pharyngeal arch artery / MGI
- absent third pharyngeal arch artery / MGI
- absent fourth pharyngeal arch artery / MGI
- abnormal inner ear morphology / MGI
- skin edema / MGI
- abnormal lymphatic vessel morphology / MGI
- abnormal ear morphology / MGI
- lymphangiectasis / MGI
- abnormal endolymphatic duct morphology / MGI
- increased apoptosis / MGI
- abnormal fourth pharyngeal arch morphology / MGI
- abnormal lymphangiogenesis / MGI
- abnormal palatal shelf fusion at midline / MGI
- abnormal interventricular septum morphology / MGI
- abnormal semilunar valve morphology / MGI
- double aortic arch / MGI
- absent pharyngeal arch arteries / MGI
- abnormal heart development / MGI
- craniofacial phenotype / MGI
- abnormal cardiovascular system morphology / MGI
- ear lobe hypoplasia / MGI
- abnormal third pharyngeal arch morphology / MGI
- abnormal sixth pharyngeal arch morphology / MGI
- ventricular septal defect / MGI
- abnormal craniofacial development / MGI
B6;129S7-Tbx1tm1Bld/Cnrm
Status | Available to order |
EMMA ID | EM:02137 |
International strain name | B6;129S7-Tbx1tm1Bld/Cnrm |
Alternative name | Tbx1lacZ |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Tbx1tm1Bld, |
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 nuclear beta galactosidase-encoding cDNA (lacZ) was inserted into exon 5 of the Tbx1 gene, inactivating it (null allele). |
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 with a number of developmental defects concerning heart, thymus, parathyroids, thyroid, ear, etc. |
Breeding history | Backcrossed to C57BL/6 and then intercrossed; mixed 129 and C57BL/6 (ca. 75% C57BL/6) background. |
References |
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Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- 22q11.2 deletion syndrome / Orphanet_567
MGI phenotypes (allele matching)
Literature references
- Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice.;Lindsay E A, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland H F, Scambler P J, Bradley A, Baldini A, ;2001;Nature;410;97-101; 11242049
- Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways.;Vitelli Francesca, Morishima Masae, Taddei Ilaria, Lindsay Elizabeth A, Baldini Antonio, ;2002;Human molecular genetics;11;915-22; 11971873
- TBX1 is required for inner ear morphogenesis.;Vitelli Francesca, Viola Antonella, Morishima Masae, Pramparo Tiziano, Baldini Antonio, Lindsay Elizabeth, ;2003;Human molecular genetics;12;2041-8; 12913075
- 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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