B6.129S7-Tbx1tm5Bld/Cnrm

Status

Available to order

EMMA IDEM:02136
International strain nameB6.129S7-Tbx1tm5Bld/Cnrm
Alternative nameTbx1Neo2
Strain typeTargeted Mutant Strains : Knock-out
Allele/Transgene symbolTbx1tm5Bld,
Gene/Transgene symbolTbx1

Information from provider

ProviderAntonio BALDINI
Provider affiliationInstitute of Genetics and Biophysics (IGB), National Research Council (CNR)
Genetic informationA 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 information5-10% 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 historyBackcrossed in C57BL/6 for 5 generations.
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;; 35946435

Information from EMMA

Archiving centreCNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous 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

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;; 35946435

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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*
  • Frozen sperm. 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
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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.

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