B6;129S7-Tbx1tm1Bld/Cnrm

Status

Available to order

EMMA IDEM:02137
International strain nameB6;129S7-Tbx1tm1Bld/Cnrm
Alternative nameTbx1lacZ
Strain typeTargeted Mutant Strains : Knock-out
Allele/Transgene symbolTbx1tm1Bld,
Gene/Transgene symbolTbx1

Information from provider

ProviderAntonio BALDINI
Provider affiliationInstitute of Genetics and Biophysics (IGB), National Research Council (CNR)
Genetic informationA nuclear beta galactosidase-encoding cDNA (lacZ) was inserted into exon 5 of the Tbx1 gene, inactivating it (null allele).
Phenotypic information5-10% 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 historyBackcrossed 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;; 35946435

Information from EMMA

Archiving centreCNR, 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

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

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

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

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

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
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