Analysis Tools
mortality/aging
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• approximately 25% of mice survive for 2 years
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• mice begin to die suddenly after 1 year of age without any obvious signs
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• pups are not born at the expected Mendelian ratio, indicating partial embryonic lethality
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growth/size/body
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• heart/body weight ratio is increased in 12- and 52-week-old mice and does not change between 12 and 52 weeks of age
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• 12-week-old mice exhibit cardiomyocyte hypertrophy, with increased heart/body weight ratio and cardiomyocyte size
• however, no increase in fibrosis or apoptosis in the heart is seen
• treatment with the MEK inhibitor trametinib ameliorates cardiac hypertrophy
• however, the AKT/mTOR signaling inhibitor rapamycin does not improve cardiac hypertrophy
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• mice exhibit more blunt snouts with reduced length of the nasal bone
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• body weight is lower until approximately 10 weeks of age, after which mice catch up with wild-type mice
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• body length is lower until approximately 10 weeks of age, after which mice catch up with wild-type mice
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• kidney/body weight ratio is increased
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• splenomegaly
• treatment with trametinib does not alleviate splenomegaly
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cardiovascular system
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• heart/body weight ratio is increased in 12- and 52-week-old mice and does not change between 12 and 52 weeks of age
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• 12-week-old mice exhibit cardiomyocyte hypertrophy, with increased heart/body weight ratio and cardiomyocyte size
• however, no increase in fibrosis or apoptosis in the heart is seen
• treatment with the MEK inhibitor trametinib ameliorates cardiac hypertrophy
• however, the AKT/mTOR signaling inhibitor rapamycin does not improve cardiac hypertrophy
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• embryos exhibit edema and/or subcutaneous hemorrhage on E14.5 and E16.5
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craniofacial
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• rounder skulls
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• mice exhibit more blunt snouts with reduced length of the nasal bone
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homeostasis/metabolism
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• embryos exhibit edema and/or subcutaneous hemorrhage on E14.5 and E16.5
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immune system
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• splenomegaly
• treatment with trametinib does not alleviate splenomegaly
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• immunostaining of back skin at E16.5 indicates lymphatic abnormalities
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integument
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• embryos exhibit edema and/or subcutaneous hemorrhage on E14.5 and E16.5
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hematopoietic system
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• splenomegaly
• treatment with trametinib does not alleviate splenomegaly
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• extramedullary hematopoiesis in the spleen and liver
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renal/urinary system
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• renal hypertrophy
• treatment with trametinib does not alleviate renal hypertrophy
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• kidney/body weight ratio is increased
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respiratory system
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• mice exhibit more blunt snouts with reduced length of the nasal bone
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skeleton
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• rounder skulls
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• mice exhibit more blunt snouts with reduced length of the nasal bone
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vision/eye
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Noonan syndrome 10 | DOID:0060588 |
OMIM:616564 |
J:361054 | |
