behavior/neurological
• mice exhibit decreased activity levels during the light cycle but not the dark cycle
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cardiovascular system
• males show decreased heart rate during both the light and dark periods and have a higher incidence of sudden bradycardic events
• the initial heart rate increase seen in wild-type mice after saline injection is blunted in mutants
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• 2-3 month old males exhibit erratic heart rate patterns, with sudden pauses in the regular rhythm of the heart rate and bradycardic events
• 2 month old males present with a variety of spontaneous cardiac arrhythmias ranging from sinus pauses and atrioventricular block to aberrant ventricular contractions
• treatment with atropine results in a drop in the frequency of arrhythmias
• treatment with isoproterenol decreases the rate of sinus pauses
• treatment with propranolol or carbachol does not reduce the rate of sinus pauses
• treatment with both atropine and propranolol decreases the rate of sinus pauses but has little effect on the overall heart rate
• treatment with propranolol does not decrease heart rate but increases sinus pauses
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• 2 month old males are susceptible to premature ventricular contractions
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• atrioventricular block is seen at a higher rate in 2 month old males
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homeostasis/metabolism
• mice exhibit decreased temperature during both light and dark cycles
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nervous system
• mice are sensitive to parasympathetic blockade with atropine but have a blunted response to parasympathetic activation with carbachol, indicating excessive parasympathetic tone
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• mice have a blunted response to either sympathetic blockade with propranolol or activation with isoproterenol
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Rett syndrome | DOID:1206 |
OMIM:312750 OMIM:613454 |
J:241788 |