Analysis Tools
mortality/aging
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• homozygotes occasionally survive to E10.5, with a few surviving up to E13.5
(J:66227)
• homozygous embryos die between E11 and E12 as a result of noradrenalin deficiency
(J:144855)
• pharmacological treatment of pregnant dams with sympathomimetic beta-adrenergic receptor agonist (L-phenylephrine, isoproterenol and ascorbic acid) from day 7.5 of gestation extends survival to E18.5
(J:144855)
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hearing/vestibular/ear
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• at E13.5, homozygotes exhibit a variable degree of otocyst formation, with 2 of 4 mutants found arrested at an earlier otocyst stage (E10.5)
• however, all sensory epithelia can be tentatively identified in remaining two (least severe) cases
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• at E11.5, homozygotes display a much smaller invaginating otocyst relative to heterozygotes; however, the ectodermal patch of tissue anterior to the otocyst appears larger
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• inner ear morphogenesis and growth is severely inhibited after initial otic vesicle formation
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• at E13.5, the entire inner ear appears as an elongated cyst, with a single extension of the endolymphatic duct observed in more developmentally advanced mutants
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• at E11.5, arrest of inner ear development is associated with a strong delay and reduction in Gata2 expression
(J:93820)
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• homozygotes display a severe reduction of cochlear sensory neuron formation
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• at E13.5, developmentally advanced homozygotes display a cochlea with a single ventral extension rather than one turn , suggesting reduced cochlear outgrowth
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• at E13.5, the common crus of the anterior and posterior canal is absent
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• at E13.5, the three semicircular canals are absent
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• at E13.5, no utricular recess is formed
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• at E13.5, no saccular recess is formed
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• at E13.5, less severely affected homozygotes display a single recess coming out of the otocyst, which is interpreted as the endolymphatic duct
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nervous system
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• homozygotes exhibit abnormal axonal navigation of the inner ear efferent neurons
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• homozygotes display aberrant inner ear efferent axonal projections, such as projections of fibers through the facial branchial motor nerve root, and caudal extension of efferent axons along the floor plate midline into r5 and occasionally into r6, not seen in wild-type littermates
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growth/size/body
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• at E11.5, the lower part of the face is hypoplastic
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• at E13.5, the entire inner ear appears as an elongated cyst, with a single extension of the endolymphatic duct observed in more developmentally advanced mutants
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embryo
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• at E10.5, the first and the second arch arteries have not degenerated, unlike in wild-type embryos; most caudal (3rd, 4th, and 6th) arch arteries have not been developed
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• at E10.5, the first arch arteries have not degenerated, unlike in wild-type embryos
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• at E10.5, the second arch arteries have not degenerated, unlike in wild-type embryos
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• at E10.5, the first branchial arch is not segregated into the maxillary and mandibular component
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• at E11.5, branchial arches are hypoplastic
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cardiovascular system
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• at E10.5, the first and the second arch arteries have not degenerated, unlike in wild-type embryos; most caudal (3rd, 4th, and 6th) arch arteries have not been developed
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• at E10.5, the first arch arteries have not degenerated, unlike in wild-type embryos
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• at E10.5, the second arch arteries have not degenerated, unlike in wild-type embryos
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• at E15.5, seven of 9 hearts exhibit anomalies of aortic arches (IAA and HAA)
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• at E15.5, one of 9 hearts exhibit a higher located aortic arch (HAA)
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• at E15.5, six of 9 hearts show an interrupted aortic arch (IAA)
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• at E9.5, the distal part of OFT (truncus arteriosus) is already shortened, and the area/intensity of expression of the OFT myocardium marker Wnt11 is significantly reduced
• OFT remains truncated up to E11.5, causing inadequate rotation of truncus arteriosus during looping stages
• at E11.5, the OFT is positioned more cranially relative to the intestinal tract
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• at E15.5, seven of 9 pharmacologically-treated, longer surviving embryos exhibit severe heart malformations
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• at E9.5, an abnormality is already detected in the arterial pole of the heart tube
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• at E11.5, the endocardial ridges are NOT coiled, unlike in wild-type controls where the ridges are coiled counterclockwise around each other for about a half of turn
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• at E15.5, seven of 9 hearts display DORV or the shift of left OFT to the right
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• sections through E11.5 OFT show that ridges have not formed a spiral septum
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• at E15.5, one of 9 hearts shows persistent truncus arteriosus (PTA)
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• at E15.5, seven of 9 hearts show a VSD
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hemorrhage
(
J:144855
)
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• at E13.5, pharmacologically-treated, longer surviving embryos exhibit body surface hemorrhage, even after gentle manipulation
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craniofacial
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• at E10.5, the first and the second arch arteries have not degenerated, unlike in wild-type embryos; most caudal (3rd, 4th, and 6th) arch arteries have not been developed
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• at E10.5, the first arch arteries have not degenerated, unlike in wild-type embryos
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• at E10.5, the second arch arteries have not degenerated, unlike in wild-type embryos
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• at E13.5, pharmacologically-treated longer surviving embryos exhibit an underdeveloped mandibula
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• at E10.5, the first branchial arch is not segregated into the maxillary and mandibular component
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• at E11.5, branchial arches are hypoplastic
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• at E11.5, the lower part of the face is hypoplastic
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respiratory system
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• at E11.5, the pharynx is located at the level of OFT where the esophagus and trachea are normally situated
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skeleton
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• at E13.5, pharmacologically-treated longer surviving embryos exhibit an underdeveloped mandibula
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cellular
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• homozygotes exhibit abnormal axonal navigation of the inner ear efferent neurons
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