Analysis Tools
mortality/aging
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• homozygotes die at E17.5, with no live embryos observed thereafter
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homeostasis/metabolism
nuchal edema
(
J:242127
)
|
• edema at the back of the neck region at E15.5
• evidence of edema in some embryos at E14.5, although not as clear as at E15.5
|
|
• accumulation of fluid in subcutaneous regions at E16.5
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cardiovascular system
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• accumulation of blood cells in the liver at E15.5
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• at E15.5, the compact myocardium (free wall) of both ventricles and the septum is hypoplastic; less pronounced at E14.5
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• myocardium hypoplasia at E15.5
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• at E15.5, the compact myocardium of both ventricles is hypoplastic
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• significant myocardium thinning at E15.5
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• abnormal heart development including cardiac noncompaction and ventricular septal defect
• transcriptome analysis of E12.5 hearts revealed abnormal expression of cardiac morphogenesis and contraction genes
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• disorganized myofiber orientation and cell alignment in both the left ventricle and the right ventricle at E14.5
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• at E15.5., the ventricular septum is thinner and less compact
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• thinner ventricular septum at E15.5
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• ventricle septal defects at E14.5
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• altered heart shape at E14.5 and E16.5, with the left ventricle apex being spherical rather than triangular in shape
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• large areas devoid of blood at E16.5
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• >3-fold decrease in the fraction of pH3-positive cardiomyocytes at E14.5 relative to wild-type hearts
• however, no significant increase in the number of apoptotic cells is observed at E14.5
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muscle
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• at E15.5, the compact myocardium (free wall) of both ventricles and the septum is hypoplastic; less pronounced at E14.5
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• myocardium hypoplasia at E15.5
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• at E15.5, the compact myocardium of both ventricles is hypoplastic
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• significant myocardium thinning at E15.5
|
|
• >3-fold decrease in the fraction of pH3-positive cardiomyocytes at E14.5 relative to wild-type hearts
• however, no significant increase in the number of apoptotic cells is observed at E14.5
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• immunofluoresence analysis revealed that striated patterns of desmin labeling are not as uniform or obvious in cardiomyocytes of the trabecular region at E14.5, indicating sarcomeric disorganization
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• in vitro, less than 50% of primary cardiomyocytes isolated from E14.5 hearts show a clear striated pattern of alpha-actinin labeling versus >80% in wild-type controls; no clear striated pattern is seen for F-actin labeling
• E14.5 cardiomyocytes, which lack a clear striated pattern, show an abnormal pattern of alpha-actinin staining, indicating abnormal Z line organization
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immune system
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• enlarged and disorganized lymphatic vessel morphogenesis in the back skin at E14.5
• however, sprouting lymphangiogenesis is normal at the lymphatic vascular front
|
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• enlarged lymphatic network in the back skin at E14.5
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liver/biliary system
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• accumulation of blood cells in the liver at E15.5
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growth/size/body
nuchal edema
(
J:242127
)
|
• edema at the back of the neck region at E15.5
• evidence of edema in some embryos at E14.5, although not as clear as at E15.5
|
integument
nuchal edema
(
J:242127
)
|
• edema at the back of the neck region at E15.5
• evidence of edema in some embryos at E14.5, although not as clear as at E15.5
|
|
• accumulation of fluid in subcutaneous regions at E16.5
|
cellular
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• >3-fold decrease in the fraction of pH3-positive cardiomyocytes at E14.5 relative to wild-type hearts
• however, no significant increase in the number of apoptotic cells is observed at E14.5
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| chromosome 1p36 deletion syndrome | DOID:0060410 |
OMIM:607872 |
J:242127 | |
