Analysis Tools
homeostasis/metabolism
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• homozygotes exhibit high levels (10-20 mg/dl) of phenylalanine in the blood compared to control levels of 2-4 mg/dl
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• serum levels of nitric oxide and other NO species is lower than in wild-type
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cardiovascular system
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• percentage of smooth muscle area in all arteries is greater in hph1-deficient mice compared to controls with no change in lumen size with fewer non muscular vessels and more partially or fully muscular vessels in mutants
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• there is more smooth muscle area in arteries associated with alveolar ducts compared to other arteries in mutants or controls
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• the RV:LV + S ratio is higher in mutants; this is entirely due to the enlarged right ventricle as seen when indexed to body weight
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• right ventricular pressure is significantly increased vs controls
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respiratory system
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• there is more smooth muscle area in arteries associated with alveolar ducts compared to other arteries in mutants or controls
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digestive/alimentary system
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• mutants have smaller, more distended stomachs than control: diameter of the pylorus is smaller than control
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muscle
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• pylorus has disproportionately thicker longitudinal, circular and muscularis mucosae layers than in wild-type mice; the hypertrophy begins ~age 10 days and is resolved by 180 days of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| hypertrophic pyloric stenosis | DOID:12638 |
OMIM:179010 OMIM:300711 OMIM:610260 OMIM:612017 OMIM:612525 |
J:101792 | |
| phenylketonuria | DOID:9281 |
OMIM:261600 |
J:9146 , J:101792 | |
