Analysis Tools
mortality/aging
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• 17% of homozygotes die at weaning
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• only 12% of homozygotes survive to adulthood
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• ~1% of homozygotes are weaned but die over the next 3 months
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• 70% of homozygotes die within the first 3 days of life
• homozygotes that survive the first few days of life die over the next 3 weeks with fulminant right heart failure
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• homozygotes are born at slightly lower than predicted Mendelian ratios
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behavior/neurological
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• newborn homozygotes contain less milk in their stomachs
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• surviving homozygotes have trouble maintaining an upright posture
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growth/size/body
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• at P10, the right ventricle is enlarged and its wall, normally thin by this age, is hypertrophied
• rare homozygotes that survive the first days of life die over the next 3 weeks displaying right ventricular hypertrophy, such that the right ventricle is equivalent to the left in thickness
• however, no obstruction of the right ventricular outflow or pulmonary valve is observed
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• surviving homozygotes are smaller than wild-type littermates
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cardiovascular system
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• at P10, the right ventricle is enlarged and its wall, normally thin by this age, is hypertrophied
• rare homozygotes that survive the first days of life die over the next 3 weeks displaying right ventricular hypertrophy, such that the right ventricle is equivalent to the left in thickness
• however, no obstruction of the right ventricular outflow or pulmonary valve is observed
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• at P10, homozygotes display massive dilatation of the right atrium
• the right atrium is generally filled with clot
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skeleton
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• the sternum is thickened and displays an irregular border
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• homozygotes exhibit misalignment of the ribs with the sternum
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• the xiphoid process may be split
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• homozygotes display partial duplication of ribs
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rib fusion
(
J:35824
)
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• homozygotes display rib fusions in the thoracic region
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• homozygotes exhibit fusion of cervical bones
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nervous system
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• axon density is increased 5.97-fold in hindlimbs and 3.74-fold in forelimbs compared to in wild-type mice
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• at P12, mutant brains are smaller than normal and comparable to those of P7 wild-type littermates
• all regions of the brain are reduced, in the absence of obvious histological abnormalities in the deep grey nuclei, cerebellum, or brainstem
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• at P12, the neuropil (a complex, feltlike net of axonal, dendritic, and glial arborizations located between neurons) is severely reduced
• all cortical layers are present, although less clearly demarcated
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• at P12, many pyramidal neurons, esp. large pyramidal neurons of layer 5, are abnormally oriented, with processes pointing in random directions
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• at P12, the thickness of the cerebral cortex is ~70% of wild-type and comparable to the thickness of the P7 wild-type cortex
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• some sensory axons project into inappropriate regions of the spinal cord, reaching the central canal and medial ventral cord
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respiratory system
| N |
• homozygotes display no evidence of pulmonary emboli or pulmonary artery hypertrophy, suggesting absence of pulmonary hypertension
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cellular
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• axon density is increased 5.97-fold in hindlimbs and 3.74-fold in forelimbs compared to in wild-type mice
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muscle
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• at P10, the right ventricle is enlarged and its wall, normally thin by this age, is hypertrophied
• rare homozygotes that survive the first days of life die over the next 3 weeks displaying right ventricular hypertrophy, such that the right ventricle is equivalent to the left in thickness
• however, no obstruction of the right ventricular outflow or pulmonary valve is observed
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homeostasis/metabolism
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• at P10, the dilated right atrium is generally filled with clot
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