Analysis Tools
cardiovascular system
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• at E10.5, doral aortae connect directly with aortic sac
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• 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
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• hypoplastic at E10.5
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• absent at E10.5
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• absent at E10.5
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• absent at E10.5
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• at E18.5, homozygotes display an abnormal (retroesophageal) right subclavian artery
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• homozygotes exhibit aortico-pulmonary septum agenesis due to severe defects in the pharyngeal region and the aortic sac
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• at term, all homozygotes display truncus arteriosus communis; however, the semilunar valve leaflets appear unaffected
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• 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
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• at E9.5, the mutant conotruncal conduit is significantly reduced in diameter
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• the conal septum is also severely affected: at term, the single arterial orifice is connected exclusively to the right ventricle
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• at E18.5, homozygotes show large ventricular septal defects that include the perimembranous and infundibular regions
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nervous system
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• at E9.5, the mutant cochleo-vestibular ganglion is abnormally (ventrally) positioned, losing its proximity to the VII cranial nerve ganglion
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• the distal ganglia of the mutant glossopharyngeal (IX) and vagus (X) nerves, which derive from the ectodermal placodes, are abnormally fused
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• the distal ganglia of the mutant glossopharyngeal (IX) and vagus (X) nerves, which derive from the ectodermal placodes, are abnormally fused
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• mutant cranial nerves are formed but their migration paths are abnormal
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• terminal projections of mutant accessory (XI) nerves are misdirected rostrally
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• axonal projections appear defasciculated and disordered
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• the fibers of the glossopharyngeal (IX) nerve are either hypoplastic or bundled to the fibers of the vagus (X) nerve
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• the mandibular branch of the trigeminal (V) nerve is abnormally directed caudally and fuses with the facial (VII) nerve fibers
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• terminal projections of mutant vagus nerves are misdirected rostrally
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• the fibers of the glossopharyngeal (IX) nerve are either hypoplastic or bundled to the fibers of the vagus (X) nerve
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hearing/vestibular/ear
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• 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
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• at E13.5, the mutant otocyst retains the morphology of an earlier, underdeveloped otocyst; no developing cochlea is observed
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• at E12.5, the mutant otocyst retains the morphology of an earlier, underdeveloped otocyst; no developing semicircular canals are observed
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• at term, homozygotes exhibit complete absence of a vestibular apparatus
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• homozygotes exhibit arrest of inner ear development at an early otocyst stage and after neurogenesis
• notably, the mutant endolymphatic duct grows apparently normally
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respiratory system
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• at E9.5, homozygotes display a severely hypoplastic pharynx which lacks the characteristic segmented pattern observed in wild-type embryos
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craniofacial
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• 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
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• reduced palatal shelf mesenchymal cell proliferation at E15.5
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• increased palatal protrusion at E14.5 but this reverses at E15.5
• abnormal cell polarity in the antero-posterior subregions
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• palatal shelves are smaller than controls at E15.5
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• palatal shelves are larger than controls at E14.5
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• at E10.5, all homozygotes show a severe developmental impairment of pharyngeal arches
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• 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
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• hypoplastic at E10.5
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• absent at E10.5
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• absent at E10.5
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• absent at E10.5
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• at E10.5, all homozygotes exhibit hypoplastic second pharyngeal arches relative to wild-type embryos
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• at E9.5, homozygotes lack clearly identifiable branchial arches 3-6
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• 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)
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embryo
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• homozygotes show impaired distribution of NC-derived cells, as detected by migratory, postmigratory, and differentiation markers
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• at E10.5, all homozygotes show a severe developmental impairment of pharyngeal arches
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• 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
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• hypoplastic at E10.5
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• absent at E10.5
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• absent at E10.5
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• absent at E10.5
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• at E10.5, all homozygotes exhibit hypoplastic second pharyngeal arches relative to wild-type embryos
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• at E9.5, homozygotes lack clearly identifiable branchial arches 3-6
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• at E9.5, homozygotes lack clearly identifiable branchial pouches 2-4
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digestive/alimentary system
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• 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
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• reduced palatal shelf mesenchymal cell proliferation at E15.5
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• increased palatal protrusion at E14.5 but this reverses at E15.5
• abnormal cell polarity in the antero-posterior subregions
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• palatal shelves are smaller than controls at E15.5
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• palatal shelves are larger than controls at E14.5
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• 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)
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cellular
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• homozygotes show impaired distribution of NC-derived cells, as detected by migratory, postmigratory, and differentiation markers
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growth/size/body
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• 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
|
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• palatal shelves are smaller than controls at E15.5
|
|
• palatal shelves are larger than controls at E14.5
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• 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)
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:67409 | |
