Analysis Tools
mortality/aging
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• only a few (8) homozygotes survive to weaning; however, 7 of 8 die within a few weeks because of a cardiac-related wasting syndrome while the eighth one survived to 14 months
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• most homozygotes die between E14.5 and birth
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• at E18.5, most homozygotes exhibit rapid demise suggesting perfusion failure
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cardiovascular system
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• at E14.5 and E18.5, most homozygotes exhibit noncompaction of left ventricular myocardium
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• at E14.5 and E18.5, homozygotes display hypertrophic trabeculae with deep intertrabecular recesses
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• at E14.5 and E18.5, homozygotes exhibit prominent ventral septal defects
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• at E18.5, most homozygotes display a significantly increased heart weight relative to wild-type mice (13.4 0.44 mg vs 8.14 0.38 mg)
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• at E14.5 and E18.5, homozygotes display a thinner left ventricular wall
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dilated heart
(
J:45536
)
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• at E18.5, most homozygotes display an enlarged heart due to four-chamber dilation
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• homozygotes exhibit severe dilated cardiomyopathy associated with aberrant single-channel gating properties of both skeletal and cardiac ryanodinereceptors
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• at E14.5, many homozygotes exhibit severe liver hemorrhage
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• a single 14-mo-old homozygote displayed reduced contractile activity in the ventricular wall, as shown by reduced fractional shortening (%FS = 19.9%) and ejection fraction (%EF = 35.8%) relative to wild-type (%FS = 41.6%; %EF = 65.1%)
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growth/size/body
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• at E18.5, most homozygotes display a significantly increased heart weight relative to wild-type mice (13.4 0.44 mg vs 8.14 0.38 mg)
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homeostasis/metabolism
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• at E14.5, about 50% of homozygotes are edematous consistent with an early heart defect
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respiratory system
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• at E18.5, most homozygotes gasp for breath
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nervous system
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• at E9.5, homozygous mutant embryos exhibit an open cranial neural tube
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exencephaly
(
J:45536
)
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• 9% of E14.5 and 4% of E18.5 homozygotes display exencephaly with a 'cauliflower-like' protrusion of the mutant brain
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muscle
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• at E14.5 and E18.5, most homozygotes exhibit noncompaction of left ventricular myocardium
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• at E14.5 and E18.5, homozygotes display hypertrophic trabeculae with deep intertrabecular recesses
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• homozygotes display an apparently normal skeletal muscle development through embryogenesis; however, lipid bilayer experiments indicate that both skeletal (RyR1) and cardiac (RyR2) ryanodinereceptors show altered single-channel properties
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• homozygotes exhibit severe dilated cardiomyopathy associated with aberrant single-channel gating properties of both skeletal and cardiac ryanodinereceptors
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• a single 14-mo-old homozygote displayed reduced contractile activity in the ventricular wall, as shown by reduced fractional shortening (%FS = 19.9%) and ejection fraction (%EF = 35.8%) relative to wild-type (%FS = 41.6%; %EF = 65.1%)
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liver/biliary system
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• at E14.5, many homozygotes exhibit severe liver hemorrhage
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• at E14.5, many homozygotes exhibit prominent liver necrosis
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embryo
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• at E9.5, homozygous mutant embryos exhibit an open cranial neural tube
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integument
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Barth syndrome | DOID:0050476 |
OMIM:302060 |
J:45536 | |
