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Symbol
Name
ID 		Tbx1
T-box 1
MGI:98493
Phenotype annotations related to hearing/vestibular/ear
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Abnormality of the ear
Abnormality of the middle ear
Recurrent otitis media
Low-set ears
Disease(s) Associated with TBX1
DiGeorge syndrome
velocardiofacial syndrome

Mouse Phenotypes
hearing/vestibular/ear phenotype
abnormal organ of Corti supporting cell differentiation
abnormal middle ear ossicle morphology
abnormal incus morphology
abnormal malleus morphology
thin malleus neck
malleus hypoplasia
abnormal stapes morphology
absent stapes
absent middle ear ossicles
abnormal outer ear morphology
ear lobe hypoplasia
lowered ear position
abnormal ear shape
abnormal external auditory canal morphology
absent outer ear
anotia
small ears
abnormal ear morphology
small otic vesicle
otic vesicle hypoplasia
abnormal inner ear morphology
abnormal cochlea morphology
collapsed Reissner membrane
abnormal organ of Corti supporting cell morphology
organ of Corti degeneration
abnormal stria vascularis morphology
abnormal strial marginal cell morphology
absent strial marginal cells
small scala media
absent cochlea
abnormal semicircular canal morphology
abnormal common crus morphology
abnormal lateral semicircular canal morphology
absent lateral semicircular canal
abnormal posterior semicircular canal morphology
abnormal semicircular canal ampulla morphology
absent semicircular canals
absent utricle
absent vestibular saccule
absent inner ear vestibule
abnormal endolymphatic duct morphology
dilated endolymphatic duct
abnormal otic capsule morphology
otic capsule hypoplasia
absent inner ear
inner ear hypoplasia
abnormal middle ear morphology
absent tubotympanic recess
abnormal tympanic ring morphology
absent tympanic ring
decreased tympanic ring size
abnormal auditory brainstem response
increased or absent threshold for auditory brainstem response
deafness
sensorineural hearing loss
increased susceptibility to otitis media
Availability Mouse Genotype
Tbx1m1H/Tbx1m1H
Tbx1m1Jlk/Tbx1m1Jlk
Tbx1nmf219/Tbx1nmf219
Tbx1tm1.1Dsr/Tbx1tm1.1Dsr
Tbx1tm1Bem/Tbx1tm1Bem
Tbx1tm1Bld/Tbx1tm1Bld
Tbx1tm1Dsr/Tbx1tm1Dsr
Tbx1tm1Pa/Tbx1tm1Pa
Tbx1m1Jlk/Tbx1tm1Bld
Tbx1tm1Bem/Tbx1+
Tbx1tm1Bld/Tbx1+
Tbx1tm1Bld/Tbx1tm5Bld
Tbx1tm2.1Bem/Tbx1tm2.2Bem
Foxg1tm1(cre)Skm/Foxg1+  (conditional)
Gt(ROSA)26Sortm1(Tbx1/GFP)Bem/Gt(ROSA)26Sor+
Foxg1tm1(cre)Skm/Foxg1+  (conditional)
Gt(ROSA)26Sortm1(Tbx1/GFP)Bem/Gt(ROSA)26Sor+
Tg(Pax2-cre)1Akg/0  (conditional)
Gt(ROSA)26Sortm1(Tbx1/GFP)Bem/Gt(ROSA)26Sor+
Tbx1tm6(cre)Bld/Tbx1+  (conditional)		 *
Mesp1tm2(cre)Ysa/Mesp1+
Tbx1tm1Bld/Tbx1tm3Bld  (conditional)
Mesp1tm2(cre)Ysa/Mesp1+
Tbx1tm1Bld/Tbx1tm5Bld  (conditional)		 *
Tbx1tm2.1Bem/Tbx1tm2.2Bem
Tg(Pax2-cre)1Akg/0  (conditional)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory