B6;129S7-Tbx1tm2Bld/Cnrm

Status

Available to order

EMMA IDEM:02222
International strain nameB6;129S7-Tbx1tm2Bld/Cnrm
Alternative nameTbx1neo
Strain typeTargeted Mutant Strains : Conditional mutation
Allele/Transgene symbolTbx1tm2Bld
Gene/Transgene symbolTbx1

Information from provider

ProviderAntonio BALDINI
Provider affiliationinstitute of biosciences and technologies, Texas A&M health science center
Genetic informationA PGKneo cassette has been inserted into intron 5 of Tbx1 (in the same 5'-3' orientation as Tbx1) in order to generate a hypomorphic allele.
Phenotypic information~10% of Tbx1neo/+ animals have aortic arch anomalies.
Breeding historyIntercrossed, approximately 50:50 C57BL/6 and 129SvEv.
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
  • In vivo response to high-resolution variation of Tbx1 mRNA dosage.;Zhang Zhen, Baldini Antonio, ;2008;Human molecular genetics;17;150-7; 17916582

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

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)
  • abnormal heart development / MGI
  • craniofacial phenotype / MGI
  • abnormal aortic arch morphology / MGI
  • abnormal pharyngeal arch morphology / MGI
  • ventricular septal defect / 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 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
  • In vivo response to high-resolution variation of Tbx1 mRNA dosage.;Zhang Zhen, Baldini Antonio, ;2008;Human molecular genetics;17;150-7; 17916582

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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).

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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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