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Symbol
Name
ID 		Tbx1
T-box 1
MGI:98493
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Micrognathia
Retrognathia
Recurrent sinusitis
Microcephaly
Abnormal dental enamel morphology
Clinodactyly of the 5th finger
Patellar dislocation
Scoliosis
Intervertebral disk degeneration
Pilonidal sinus
Cerebral calcification
Disease(s) Associated with TBX1
DiGeorge syndrome
hypoparathyroidism
tetralogy of Fallot
velocardiofacial syndrome

Mouse Phenotypes
abnormal craniofacial bone morphology
abnormal cranium morphology
fusion of basioccipital and basisphenoid bone
abnormal temporal bone morphology
temporal bone hypoplasia
abnormal zygomatic arch morphology
absent zygomatic arch
abnormal hyoid bone morphology
hyoid bone hypoplasia
abnormal upper incisor morphology
absent upper incisors
absent mandibular coronoid process
short mandible
micrognathia
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
small cricoid cartilage
abnormal thyroid cartilage morphology
small thyroid cartilage
abnormal cervical atlas morphology
absent arcus anterior
Availability Mouse Genotype
Tbx1tm1.1Dsr/Tbx1tm1.1Dsr
Tbx1tm1Dsr/Tbx1tm1Dsr
Tbx1tm1Pa/Tbx1tm1Pa
Tbx1tm2Bem/Tbx1tm2Bem
Tbx1tm2.1Bem/Tbx1tm2.2Bem
Foxg1tm1(cre)Skm/Foxg1+  (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