Analysis Tools
mortality/aging
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• homozygous mutant embryos are present at the expected Mendelian ratios between E8.0-E10.0; however, no viable mutant embryos are detected shortly after E10.5 as a result of severe heart failure
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cardiovascular system
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• by E10.0, homozygotes exhibit a small first branchial (aortic) arch artery
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• by E10.0, homozygotes exhibit no evidence of a second branchial arch artery
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• at E9.5, mutant embryos show significant dilation of the aortic sac
• by E10.5, the mutant aortic sac resembles a markedly dilated balloon-like structure
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• mutants exhibit an abrupt and aberrant connection between the cardiac outflow tract (conotruncus) and a single left-sided ventricular chamber
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• homozygotes initiate looping in the correct direction; however, looping advances to the stage where the atrium occupies a dorsal position relative to the ventricle
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• homozygotes exhibit an abrupt and aberrant connection between the cardiac outflow tract (conotruncus) and a single left-sided ventricular chamber
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• at E10.0, homozygotes fail to exhibit ventricular trabeculae, resulting in reduced contractility
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• homozygotes lack a distinguishable right-sided ventricular chamber of the heart
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• at E9.5, homozygotes show evidence of a marked pericardial effusion in the pericardial sac
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embryo
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• by E10.0, homozygotes exhibit a small first branchial (aortic) arch artery
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• by E10.0, homozygotes exhibit no evidence of a second branchial arch artery
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• although of normal size at E9.5, mutant embryos exhibit growth retardation at E10.5
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• at E10.0, mutant forelimb buds appear variably dysmorphic, often exhibiting an anterior margin at the level of somite 8 or 9, instead of somite 7 as in wild-type embryos
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• at E10.0, mutant forelimb buds are extremely small
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• homozygotes form ~24 somites, with somites becoming progressively smaller towards the posterior end of the embryo, suggesting impaired trunk development
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growth/size/body
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• although of normal size at E9.5, mutant embryos exhibit growth retardation at E10.5
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muscle
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• at E10.0, homozygotes fail to exhibit ventricular trabeculae, resulting in reduced contractility
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homeostasis/metabolism
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• at E9.5, homozygotes show evidence of a marked pericardial effusion in the pericardial sac
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• by E9.75, homozygotes exhibit severe edema, probably as a result of circulatory dysfunction
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limbs/digits/tail
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• at E10.0, mutant forelimb buds appear variably dysmorphic, often exhibiting an anterior margin at the level of somite 8 or 9, instead of somite 7 as in wild-type embryos
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• at E10.0, mutant forelimb buds are extremely small
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craniofacial
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• by E10.0, homozygotes exhibit a small first branchial (aortic) arch artery
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• by E10.0, homozygotes exhibit no evidence of a second branchial arch artery
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