- abnormal placenta morphology / IMPC
- persistence of hyaloid vascular system / IMPC
- abnormal blood vessel morphology / IMPC
- abnormal skin morphology / IMPC
- edema / IMPC
- hyperactivity / IMPC
- preweaning lethality, complete penetrance / IMPC
- microphthalmia / IMPC
- embryonic growth retardation / IMPC
- anophthalmia / IMPC
- abnormal pancreas morphology / IMPC
- abnormal eye morphology / IMPC
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
IMPC phenotypes (gene matching)
MGI phenotypes (allele matching)
- 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
MGI phenotypes (gene matching)
- small ears / MGI
- abnormal ear shape / MGI
- lowered ear position / MGI
- abnormal inner ear morphology / MGI
- abnormal malleus morphology / MGI
- abnormal tympanic ring morphology / MGI
- absent semicircular canals / MGI
- abnormal lateral semicircular canal morphology / MGI
- abnormal otic capsule morphology / MGI
- abnormal middle ear morphology / MGI
- short mandible / MGI
- cleft palate / MGI
- kyphosis / MGI
- abnormal heart development / MGI
- abnormal interventricular septum morphology / MGI
- double outlet right ventricle / MGI
- abnormal cranium morphology / MGI
- kinked tail / MGI
- absent parathyroid glands / MGI
- abnormal thymus development / MGI
- athymia / MGI
- small thymus / MGI
- abnormal myogenesis / MGI
- abnormal cranial nerve morphology / MGI
- abnormal trigeminal nerve morphology / MGI
- abnormal mandibular nerve branching / MGI
- abnormal facial nerve morphology / MGI
- abnormal vestibulocochlear nerve morphology / 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 blood vessel morphology / MGI
- decreased embryo size / MGI
- edema / MGI
- skin edema / MGI
- thymus hypoplasia / MGI
- increased susceptibility to otitis media / MGI
- abnormal lymphatic vessel morphology / MGI
- respiratory failure / MGI
- abnormal motor capabilities/coordination/movement / MGI
- postnatal lethality / MGI
- abnormal ear morphology / MGI
- abnormal craniofacial bone morphology / MGI
- abnormal cardiovascular system morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal outer ear morphology / MGI
- hydrops fetalis / MGI
- abnormal pharyngeal muscle morphology / MGI
- abnormal thyroid cartilage morphology / MGI
- abnormal laryngeal muscle morphology / MGI
- abnormal semicircular canal morphology / MGI
- abnormal social/conspecific interaction / MGI
- persistent truncus arteriosis / MGI
- micrognathia / MGI
- abnormal pharyngeal arch artery morphology / MGI
- abnormal semilunar valve morphology / MGI
- increased thigmotaxis / MGI
- abnormal cochlear ganglion morphology / MGI
- abnormal pharyngeal arch morphology / MGI
- abnormal cardiovascular development / MGI
- abnormal neural crest cell migration / MGI
- abnormal cervical vertebrae morphology / MGI
- curly tail / MGI
- abnormal hyoid bone morphology / MGI
- anotia / MGI
- absent cochlea / MGI
- absent lateral semicircular canal / MGI
- abnormal artery development / MGI
- abnormal response to novel object / MGI
- ear lobe hypoplasia / MGI
- abnormal vestibulocochlear ganglion morphology / MGI
- abnormal facial morphology / MGI
- abnormal palate morphology / MGI
- vascular smooth muscle hypoplasia / MGI
- absent pharyngeal arches / MGI
- abnormal craniofacial development / MGI
- lymphangiectasis / MGI
- abnormal aortic arch morphology / MGI
- interrupted aortic arch / MGI
- right aortic arch / MGI
- double aortic arch / MGI
- retroesophageal right subclavian artery / MGI
- cervical aortic arch / MGI
- absent stapes / MGI
- absent masseter muscle / MGI
- absent pterygoid muscle / MGI
- small otic vesicle / MGI
- otic vesicle hypoplasia / MGI
- absent inner ear vestibule / MGI
- abnormal zygomatic arch morphology / MGI
- pharynx hypoplasia / MGI
- fusion of glossopharyngeal and vagus nerve / MGI
- glossopharyngeal nerve hypoplasia / MGI
- fusion of basioccipital and basisphenoid bone / MGI
- abnormal vertebral arch morphology / MGI
- abnormal cervical atlas morphology / MGI
- abnormal cervical axis morphology / MGI
- fusion of vertebral bodies / MGI
- absent vertebral body / MGI
- abnormal dorsal aorta morphology / MGI
- absent upper incisors / MGI
- absent mandibular coronoid process / MGI
- absent ultimobranchial body / MGI
- abnormal middle ear ossicle morphology / MGI
- abnormal incus morphology / MGI
- abnormal stapes morphology / MGI
- abnormal temporal bone morphology / MGI
- craniofacial phenotype / MGI
- absent outer ear / MGI
- abnormal vascular smooth muscle physiology / MGI
- abnormal endolymphatic duct morphology / MGI
- dilated endolymphatic duct / MGI
- decreased tympanic ring size / MGI
- abnormal pharyngeal pouch morphology / MGI
- abnormal external auditory canal morphology / MGI
- increased apoptosis / MGI
- abnormal fetal atrioventricular canal morphology / MGI
- abnormal cardiac outflow tract development / MGI
- absent inner ear / MGI
- inner ear hypoplasia / MGI
- abnormal third pharyngeal arch morphology / MGI
- abnormal fourth pharyngeal arch morphology / MGI
- small second pharyngeal arch / MGI
- absent second pharyngeal arch / MGI
- small pharyngeal arch / MGI
- abnormal sixth pharyngeal arch morphology / MGI
- abnormal fourth pharyngeal arch artery morphology / MGI
- abnormal spatial working memory / MGI
- abnormal lymphangiogenesis / MGI
- decreased prepulse inhibition / MGI
- abnormal arcus anterior morphology / MGI
- abnormal palatal shelf fusion at midline / MGI
- palatal shelves fail to meet at midline / MGI
- cleft secondary palate / MGI
- abnormal neuron differentiation / MGI
- malleus hypoplasia / MGI
- thin malleus neck / MGI
- ventricular septal defect / MGI
- perimembraneous ventricular septal defect / MGI
- abnormal truncus arteriosus septation / MGI
- aberrant origin of the right subclavian artery / MGI
- abnormal conotruncus morphology / MGI
- abnormal conotruncus septation / MGI
- absent third pharyngeal arch / MGI
- absent arcus anterior / MGI
- neonatal lethality, complete penetrance / MGI
- neonatal lethality, incomplete penetrance / MGI
- increased or absent threshold for auditory brainstem response / MGI
- absent pharyngeal arch arteries / MGI
- short neck / MGI
- pharynx stenosis / MGI
- fourth pharyngeal arch hypoplasia / MGI
- decreased vocalization / MGI
- absent facial muscle / MGI
- abnormal upper incisor morphology / MGI
- absent sixth pharyngeal arch artery / MGI
- absent third pharyngeal arch artery / MGI
- absent fourth pharyngeal arch artery / MGI
- fourth pharyngeal arch artery hypoplasia / MGI
- abnormal hypoglossal cord morphology / MGI
- small thyroid cartilage / MGI
- small cricoid cartilage / MGI
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;150104; 35946435
- Significant improvement of cardiac outflow tract septation defects in a DiGeorge syndrome model after minoxidil treatment.;Aurigemma Ilaria, Ferrentino Rosa, Krishnan Varsha Poondi, Lanzetta Olga, Angelini Claudia, Illingworth Elizabeth, Baldini Antonio, ;2024;Biochemical and biophysical research communications;720;150-7; 38749189
- In vivo response to high-resolution variation of Tbx1 mRNA dosage.;Zhang Zhen, Baldini Antonio, ;2008;Human molecular genetics;17;; 17916582
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