B6;129S7-Tbx1^tm1Bld/Cnrm

Status	Available to order
EMMA ID	EM:02137
International strain name	B6;129S7-Tbx1^tm1Bld/Cnrm
Alternative name	Tbx1lacZ
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Tbx1^tm1Bld
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	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;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;; 38749189

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

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 (allele matching)

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

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 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;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;; 38749189

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Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

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B6;129S7-Tbx1tm1Bld/Cnrm