embryo
• at E11.5 embryos show open brain phenotype
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• at E11.5 caudal neural tube is open
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• abnormal at E8.5 and E9, indicating delayed detachment from dorsal foregut endoderm; appears hypertrophic compared to wild-type at E9
• no clear boundary between notochord and endoderm is detected at E8.5
• at E9.5, notochord has lateral branches close to or tethered to dorsal foregut in contrast to wild-type notochord
• increased apoptotic cell numbers are seen at E9.5-E9.75
• non-notochordal cells are observed within the notochord at E9.0
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digestive/alimentary system
• at E10.5-11.5 most mutants display Type C esophageal atresia/tracheoesophageal fistula (EA/TEF); some embryos show milder phenotype indicative of esophageal stenosis
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• at E9.5, reduction in dorsoventral diameter of the foregut is observed; dorsal foregut endoderm is reduced in mutant embryos
• loosening or loss of dorsal foregut cells is consistently observed at E9; endodermal cells show basement membrane disruption
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• at E10.5-11.5, >80% of embryos display Type C esophageal atresia/tracheoesophageal fistula (EA/TEF)
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• severe narrowing of the esophagus is seen by E9.5
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• at E10.5-11.5, >80% of embryos display Type C esophageal atresia/tracheoesophageal fistula (EA/TEF) with the upper esophagus ending in a blind pouch and the lower esophagus connects to the trachea via a fistula
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nervous system
• at E11.5 embryos show open brain phenotype
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• at E11.5 caudal neural tube is open
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respiratory system
• at E10.5-11.5, >80% of embryos display Type C esophageal atresia/tracheoesophageal fistula (EA/TEF) with the upper esophagus ending in a blind pouch and the lower esophagus connects to the trachea via a fistula
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
esophageal atresia/tracheoesophageal fistula | DOID:0080171 |
OMIM:189960 |
J:118341 |