Analysis Tools
mortality/aging
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• mice die at or shortly after birth, with no mice surviving more than 2 days
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• mice die at or shortly after birth, with no mice surviving more than 2 days
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cardiovascular system
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• hearts show immature and poorly aligned mitochondrial cristae
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• E18.5 heart myofibrils show a severe reduction in myosin filament density and a loss or deformation of Z discs and tropomyosin fails to localize into discrete sarcomeres
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• the trabeculae in hearts remain straight and protrude perpendicularly to the compact zones and extend across the lumen compared to wild-type hearts in which trabeculae are folded and oriented parallel to the free wall of the right ventricle
• at E9.5, trabeculae in hearts are longer and protrude into the ventricular cavities and form a ventricular mesh network and by E12.5, hearts show excess trabeculae
• by E14.5, trabeculae are thicker while the compact layer is thinner and trabeculae fail to fold
• trabecular phenotypes persist at E16.5 and E18.5 but the thickness of the compact zones in the left ventricle are similar to wild-type, indicating a failure to terminate cardiac trabeculation
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• by E12.5, hearts show thinning of the compact layer and the compact layer is thinner at E14.5
• while trabecular phenotypes persist at E16.5 and E18.5, the thickness of the compact zones in the left ventricle are similar to wild-type at these time points
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• hearts show an increase in Alcian Blue (detects acidic mucopolysaccharides) in the ventricular cardiac jelly at E9.5, E10.5, E12.5, and E13.5 as well as an increase in versican, indicating an accumulation of extracellular matrix
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• increase in the number of cardiomyocytes in P0 hearts
• however, cardiomyocyte size is not different from controls at P0
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• hearts show severe right ventricular and modest left ventricular noncompaction
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• increase in the thickness of the ventricular septa
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• about 20% of hearts show ventricular septal defects
• however, however, no alterations in the development of the aorta and pulmonary artery are seen
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• increase in the thickness of the ventricular walls
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• left ventricular ejection fraction and left ventricular fractional shortening are reduced
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• decrease in cardiomyocytes in the G1 phase and a concomitant increase of cardiomyocytes in the S phase and an increase in G2/M phases
• gene set enrichment analysis shows that cardiomyocytes are in an immature state
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• cardiomyocytes show an increased and prolonged state of proliferation
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• short-axis M-mode echocardiograms show little ventricular wall movement, severe cardiac contractile dysfunction, reduced left ventricular ejection fraction, left ventricular fractional shortening, right ventricular end-systolic, and diastolic volume at E18.5
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• heart rate is reduced at E18.5
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cellular
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• cardiomyocytes show an increased and prolonged state of proliferation
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muscle
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• E18.5 heart myofibrils show a severe reduction in myosin filament density and a loss or deformation of Z discs and tropomyosin fails to localize into discrete sarcomeres
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• the trabeculae in hearts remain straight and protrude perpendicularly to the compact zones and extend across the lumen compared to wild-type hearts in which trabeculae are folded and oriented parallel to the free wall of the right ventricle
• at E9.5, trabeculae in hearts are longer and protrude into the ventricular cavities and form a ventricular mesh network and by E12.5, hearts show excess trabeculae
• by E14.5, trabeculae are thicker while the compact layer is thinner and trabeculae fail to fold
• trabecular phenotypes persist at E16.5 and E18.5 but the thickness of the compact zones in the left ventricle are similar to wild-type, indicating a failure to terminate cardiac trabeculation
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• by E12.5, hearts show thinning of the compact layer and the compact layer is thinner at E14.5
• while trabecular phenotypes persist at E16.5 and E18.5, the thickness of the compact zones in the left ventricle are similar to wild-type at these time points
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• left ventricular ejection fraction and left ventricular fractional shortening are reduced
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• cardiomyocytes show an increased and prolonged state of proliferation
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• E18.5 heart myofibrils show a loss or deformation of Z discs
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• E18.5 hindlimbs have fewer but larger myofibers that are disorganized
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• E18.5 hindlimbs have larger myofibers
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• E18.5 hindlimbs have fewer myofibers
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skeleton
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• the distal hypertrophic chondrocyte layer of the tibia is thicker at E18.5
• however, length of the tibial bone is normal
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| left ventricular noncompaction | DOID:0060480 |
OMIM:604169 |
J:338019 | |
