Analysis Tools
mortality/aging
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• no living mutants are seen after E15.5 based on heart beat and an increased number of absorbed embryos are seen from E13.5 to E16.5, indicating lethality from E14.5 to total lethality before E16.5
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embryo
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• growth retardation is seen in 100% of mutants at E12.5, E14.5, and E16.5, with variable developmental delay; embryos appear to be one embryonic day behind wild-type littermate controls
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cardiovascular system
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• hypervascularization of the peripheral vessel capillaries
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• heart mass of E14.5-E16 mutants is reduced
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• heart wall is less compact
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• hypomorphic muscular layers of myocardium
• myocardium exhibits disruption of tissue architecture with enlarged intercellular spaces and small amount of cardiomyocytes are seen at E16
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• the myocardium is thinner in the ventricle area at E14.5
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• heart wall of both ventricles is thinner at E14.5
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• pericardial effusion is seen in less than 20% of E12.5-E14.5 mutants
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• E15.5, but not E14.5, mutants exhibit a decline in heart function, showing abnormal blood flow velocities and velocity-time integral in dorsal aorta
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• 11 of 16 mutants exhibit irregular or spare heart beating at E15.5
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craniofacial
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• some embryos exhibit defective palatal shelf development and the formation of cleft palate at E15.5
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• variable severity of incomplete secondary palate formation
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• secondary cleft palate is seen in 2 of 4 mutants at E15.5
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• E15.5 mutants exhibit a smaller number of initiated nasal glands
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digestive/alimentary system
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• some embryos exhibit defective palatal shelf development and the formation of cleft palate at E15.5
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• variable severity of incomplete secondary palate formation
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• secondary cleft palate is seen in 2 of 4 mutants at E15.5
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endocrine/exocrine glands
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• E15.5 mutants exhibit a smaller number of initiated nasal glands
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growth/size/body
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• some embryos exhibit defective palatal shelf development and the formation of cleft palate at E15.5
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• variable severity of incomplete secondary palate formation
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• secondary cleft palate is seen in 2 of 4 mutants at E15.5
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• E15.5 mutants exhibit a smaller number of initiated nasal glands
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• growth retardation is seen in 100% of mutants at E12.5, E14.5, and E16.5, with variable developmental delay; embryos appear to be one embryonic day behind wild-type littermate controls
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nuchal edema
(
J:291583
)
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• E13.5 embryos exhibit nuchal edema
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homeostasis/metabolism
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• pericardial effusion is seen in less than 20% of E12.5-E14.5 mutants
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nuchal edema
(
J:291583
)
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• E13.5 embryos exhibit nuchal edema
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integument
nuchal edema
(
J:291583
)
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• E13.5 embryos exhibit nuchal edema
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liver/biliary system
small liver
(
J:291583
)
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• liver size is only about 46% in comparison to wild-type size
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muscle
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• hypomorphic muscular layers of myocardium
• myocardium exhibits disruption of tissue architecture with enlarged intercellular spaces and small amount of cardiomyocytes are seen at E16
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• the myocardium is thinner in the ventricle area at E14.5
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nervous system
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• brain is developmentally delayed and reduced in size
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renal/urinary system
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• decelerated development of kidneys at E14.5 to E16, including nephron differentiation
• E14.5 kidneys show a reduction in the number of S-shaped bodies and glomeruli and E16.5 kidneys show tissue abrogation with only a few, much reduced tubules
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small kidney
(
J:291583
)
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• kidney size is only about 52% in comparison to wild-type size
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respiratory system
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• E15.5 mutants exhibit a smaller number of initiated nasal glands
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small lung
(
J:291583
)
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• lungs are smaller and underdeveloped at E14.5
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | DOID:0112247 |
OMIM:617360 |
J:291583 | |
