growth/size/body
• mutants start to show lower weight at 2 months of age
• mutants treated with Dox to turn off transgene expression from conception to 3 months of age show normal weight
• Dox administration from 1 to 3 months of age to turn off transgene expression before the onset of abnormalities is seen does not prevent abnormal phenotypes, with mutants developing lower weight from 9 weeks of age
• Dox administration from 3 to 5 months of age to turn off transgene expression after the onset of abnormal phenotypes does not result in recovery after 2 months of Dox treatment
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behavior/neurological
• mutants show less freezing in the contextual fear test, indicating that learning and/or memory are impaired
• mutants treated with Dox to turn off transgene expression from conception to 3 months of age show normal contextual memory
• Dox administration from 1 to 3 months of age to turn off transgene expression before the onset of abnormalities is seen does not prevent abnormal phenotypes, with mutants developing impaired learning and memory in the fear contextual conditioning test
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• mutants show less freezing in the sound cued fear tests, indicating that learning and/or memory are impaired
• mutants treated with Dox to turn off transgene expression from conception to 3 months of age still show impaired memory in the sound cue test
• Dox administration from 1 to 3 months of age to turn off transgene expression before the onset of abnormalities is seen does not prevent abnormal phenotypes, with mutants developing impaired learning and memory in the cued conditioning tests
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• in the open field, mutants show an increase in total distance traveled indicating hyperactivity
• however anxiety-like behavior is not observed and mice show normal sociability and preference for social novelty
• mutants treated with Dox to turn off transgene expression from conception to 3 months of age show normal activity
• Dox administration from 1 to 3 months of age to turn off transgene expression before the onset of abnormalities is seen does not prevent abnormal phenotypes, with mutants developing hyperactivity
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• lower percentage of vocalization, with mutants showing 8% vocalization compared to 29% in wild-type mice
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adipose tissue
• mutants show lower abdominal fat weight
• mutants treated with Dox to turn off transgene expression from conception to 3 months of age show normal abdominal fat weight
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Potocki-Lupski syndrome | DOID:0060853 |
OMIM:610883 |
J:207141 |