About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3610987
Allelic
Composition
Tbx1tm1Bld/Tbx1tm1Bld
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1Bld mutation (1 available); any Tbx1 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• at E10.5, doral aortae connect directly with aortic sac
• at E10.5, all homozygotes lack the third, fourth and sixth pharyngeal arch arteries (PAAs); instead, the dorsal aortae connected directly with the aortic sac
• at E18.5, homozygotes display an abnormal (retroesophageal) right subclavian artery
• homozygotes exhibit aortico-pulmonary septum agenesis due to severe defects in the pharyngeal region and the aortic sac
• at term, all homozygotes display truncus arteriosus communis; however, the semilunar valve leaflets appear unaffected
• homozygotes exhibit incorrect alignment between the atrioventricular canal and the outflow tract, as shown by the loss of continuity between truncal leaflets and the mitral valve
• at E9.5, the mutant conotruncal conduit is significantly reduced in diameter
• the conal septum is also severely affected: at term, the single arterial orifice is connected exclusively to the right ventricle
• at E18.5, homozygotes show large ventricular septal defects that include the perimembranous and infundibular regions

nervous system
• at E9.5, the mutant cochleo-vestibular ganglion is abnormally (ventrally) positioned, losing its proximity to the VII cranial nerve ganglion
• the distal ganglia of the mutant glossopharyngeal (IX) and vagus (X) nerves, which derive from the ectodermal placodes, are abnormally fused
• the distal ganglia of the mutant glossopharyngeal (IX) and vagus (X) nerves, which derive from the ectodermal placodes, are abnormally fused
• mutant cranial nerves are formed but their migration paths are abnormal
• terminal projections of mutant accessory (XI) nerves are misdirected rostrally
• axonal projections appear defasciculated and disordered
• the fibers of the glossopharyngeal (IX) nerve are either hypoplastic or bundled to the fibers of the vagus (X) nerve
• the mandibular branch of the trigeminal (V) nerve is abnormally directed caudally and fuses with the facial (VII) nerve fibers
• terminal projections of mutant vagus nerves are misdirected rostrally
• the fibers of the glossopharyngeal (IX) nerve are either hypoplastic or bundled to the fibers of the vagus (X) nerve

hearing/vestibular/ear
• at E9.5, homozygotes exhibit a significantly reduced otocyst with a thickened epithelial wall
• during E9.5-E13.5, the mutant otocyst expands only minimally, indicating failure of subsequent growth and morphogenesis
• at E13.5, the mutant otocyst retains the morphology of an earlier, underdeveloped otocyst; no developing cochlea is observed
• at E12.5, the mutant otocyst retains the morphology of an earlier, underdeveloped otocyst; no developing semicircular canals are observed
• at term, homozygotes exhibit complete absence of a vestibular apparatus
• homozygotes exhibit arrest of inner ear development at an early otocyst stage and after neurogenesis
• notably, the mutant endolymphatic duct grows apparently normally

respiratory system
• at E9.5, homozygotes display a severely hypoplastic pharynx which lacks the characteristic segmented pattern observed in wild-type embryos

craniofacial
• in early palate development (E11.2-E12.5) shelves are thicker compared to controls but this reverses in later stages (E13.5 - E15.5)
• increase in cell density before elevation is retarded and decreasing density after elevation is absent
• reduced palatal shelf mesenchymal cell proliferation at E15.5
• increased palatal protrusion at E14.5 but this reverses at E15.5
• abnormal cell polarity in the antero-posterior subregions
• palatal shelves are smaller than controls at E15.5
• palatal shelves are larger than controls at E14.5
• at E10.5, all homozygotes show a severe developmental impairment of pharyngeal arches
• at E10.5, all homozygotes lack the third, fourth and sixth pharyngeal arch arteries (PAAs); instead, the dorsal aortae connected directly with the aortic sac
• at E10.5, all homozygotes exhibit hypoplastic second pharyngeal arches relative to wild-type embryos
• at E9.5, homozygotes lack clearly identifiable branchial arches 3-6
• at E18.5, all homozygotes exhibit a cleft palate (J:91013)
• Background Sensitivity: on this mixed background, all mutants have complete cleft secondary palate (J:110378)

embryo
• homozygotes show impaired distribution of NC-derived cells, as detected by migratory, postmigratory, and differentiation markers
• at E10.5, all homozygotes show a severe developmental impairment of pharyngeal arches
• at E10.5, all homozygotes lack the third, fourth and sixth pharyngeal arch arteries (PAAs); instead, the dorsal aortae connected directly with the aortic sac
• at E10.5, all homozygotes exhibit hypoplastic second pharyngeal arches relative to wild-type embryos
• at E9.5, homozygotes lack clearly identifiable branchial arches 3-6
• at E9.5, homozygotes lack clearly identifiable branchial pouches 2-4

digestive/alimentary system
• in early palate development (E11.2-E12.5) shelves are thicker compared to controls but this reverses in later stages (E13.5 - E15.5)
• increase in cell density before elevation is retarded and decreasing density after elevation is absent
• reduced palatal shelf mesenchymal cell proliferation at E15.5
• increased palatal protrusion at E14.5 but this reverses at E15.5
• abnormal cell polarity in the antero-posterior subregions
• palatal shelves are smaller than controls at E15.5
• palatal shelves are larger than controls at E14.5
• at E18.5, all homozygotes exhibit a cleft palate (J:91013)
• Background Sensitivity: on this mixed background, all mutants have complete cleft secondary palate (J:110378)

cellular
• homozygotes show impaired distribution of NC-derived cells, as detected by migratory, postmigratory, and differentiation markers

growth/size/body
• in early palate development (E11.2-E12.5) shelves are thicker compared to controls but this reverses in later stages (E13.5 - E15.5)
• increase in cell density before elevation is retarded and decreasing density after elevation is absent
• reduced palatal shelf mesenchymal cell proliferation at E15.5
• increased palatal protrusion at E14.5 but this reverses at E15.5
• abnormal cell polarity in the antero-posterior subregions
• palatal shelves are smaller than controls at E15.5
• palatal shelves are larger than controls at E14.5
• at E18.5, all homozygotes exhibit a cleft palate (J:91013)
• Background Sensitivity: on this mixed background, all mutants have complete cleft secondary palate (J:110378)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
DiGeorge syndrome DOID:11198 OMIM:188400
J:67409


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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
05/28/2024
MGI 6.13
The Jackson Laboratory