B6;129S7-Tbx1^tm3Bld/Cnrm

Status	Available to order
EMMA ID	EM:02135
Citation information	RRID:IMSR_EM:02135 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	B6;129S7-Tbx1^tm3Bld/Cnrm
Alternative name	Tbx1Flox
Strain type	Targeted Mutant Strains : Conditional mutation
Allele/Transgene symbol	Tbx1^tm3Bld
Gene/Transgene symbol	Tbx1

Information from provider

Provider	Antonio BALDINI
Provider affiliation	Institute of Genetics and Biophysics (IGB), National Research Council (CNR)
Genetic information	Exon 5 of the Tbx1 gene is modified so that is flanked by loxP sites. The insertion of the loxP sites does not affect the function of the gene.
Phenotypic information	There is no abnormal phenotype associated with this mutation, unless there is Cre-induced recombination.
References	Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract.;Xu Huansheng, Morishima Masae, Wylie John N, Schwartz Robert J, Bruneau Benoit G, Lindsay Elizabeth A, Baldini Antonio, ;2004;Development (Cambridge, England);131;3217-27; 15175244 Tbx1 regulates population, proliferation and cell fate determination of otic epithelial cells.;Xu Huansheng, Viola Antonella, Zhang Zhen, Gerken Claudia P, Lindsay-Illingworth Elizabeth A, Baldini Antonio, ;2007;Developmental biology;302;670-82; 17074316 Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion.;Xu Huansheng, Cerrato Fabiana, Baldini Antonio, ;2005;Development (Cambridge, England);132;4387-95; 16141220 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 Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development.;Zhang Zhen, Cerrato Fabiana, Xu Huansheng, Vitelli Francesca, Morishima Masae, Vincentz Joshua, Furuta Yasuhide, Ma Lijiang, Martin James F, Baldini Antonio, Lindsay Elizabeth, ;2005;Development (Cambridge, England);132;5307-15; 16284121 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

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)

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

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

Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract.;Xu Huansheng, Morishima Masae, Wylie John N, Schwartz Robert J, Bruneau Benoit G, Lindsay Elizabeth A, Baldini Antonio, ;2004;Development (Cambridge, England);131;3217-27; 15175244
Tbx1 regulates population, proliferation and cell fate determination of otic epithelial cells.;Xu Huansheng, Viola Antonella, Zhang Zhen, Gerken Claudia P, Lindsay-Illingworth Elizabeth A, Baldini Antonio, ;2007;Developmental biology;302;670-82; 17074316
Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion.;Xu Huansheng, Cerrato Fabiana, Baldini Antonio, ;2005;Development (Cambridge, England);132;4387-95; 16141220
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
Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development.;Zhang Zhen, Cerrato Fabiana, Xu Huansheng, Vitelli Francesca, Morishima Masae, Vincentz Joshua, Furuta Yasuhide, Ma Lijiang, Martin James F, Baldini Antonio, Lindsay Elizabeth, ;2005;Development (Cambridge, England);132;5307-15; 16284121
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
Pax9 is required for cardiovascular development and interacts with Tbx1 in the pharyngeal endoderm to control 4th pharyngeal arch artery morphogenesis.;Phillips Helen M, Stothard Catherine A, Shaikh Qureshi Wasay M, Kousa Anastasia I, Briones-Leon J Alberto, Khasawneh Ramada R, O'Loughlin Chloe, Sanders Rachel, Mazzotta Silvia, Dodds Rebecca, Seidel Kerstin, Bates Timothy, Nakatomi Mitsushiro, Cockell Simon J, Schneider Jürgen E, Mohun Timothy J, Maehr René, Kist Ralf, Peters Heiko, Bamforth Simon D, ;2019;Development (Cambridge, England);146;; 31444215

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Practical information

Genotyping protocol

Example health report
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Material Transfer Agreement (MTA)
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EMMA conditions
Legally binding conditions for the transfer

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B6;129S7-Tbx1tm3Bld/Cnrm