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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 (19 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
• 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
• 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
• 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)
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last database update
09/10/2019
MGI 6.14
The Jackson Laboratory