- 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
B6;129S7-Tbx1tm3.1Bld/Cnrm
Status | Available to order |
EMMA ID | EM:02224 |
International strain name | B6;129S7-Tbx1tm3.1Bld/Cnrm |
Alternative name | Tbx1deltaE5 |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Tbx1tm3.1Bld |
Gene/Transgene symbol | Tbx1 |
Information from provider
Provider | Antonio BALDINI |
Provider affiliation | institute of biosciences and technologies, Texas A&M health science center |
Genetic information | The Tbx1deltaE5 mutation was generated by exposing Tbx1flox targeted ES cells to Cre recombinase. The Tbx1flox construct has loxP sites flanking exon 5 of the endogenous Tbx1 gene. Cre induces recombination between loxP sites thereby deleting exon 5, a key coding exon in the T-box domain. Tbx1deltaE5 is a null allele. |
Phenotypic information | Some Tbx1deltaE5 heterozygotes have aortic arch defects. |
Breeding history | Intercrossed or bred with C57BL/6 x 129SvEv. |
References |
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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)
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
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