Analysis Tools
growth/size/body
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• smaller at around 3 weeks of age
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• average body weight is only half that of controls at 4-5 weeks of age, however by 15 weeks of age, homozygous males catch up with controls while homozygous females remain smaller and are about 80% of wild-type weight
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vision/eye
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• exhibit dilated ocular pupils, however find no other eye abnormalities
• no change in pupil size in response to pilocarpine, a nonselective muscarinic agonist, however atropine instillation causes further dilation and completed mydriasis
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renal/urinary system
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• contractility of the detrusor muscles by carbachol, but not KCl, stimulation is decreased to only 5% of that seen in wild-type
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• mild hydronephrosis in 3 of 10 homozygous males, showing a distended renal calyx with some perivascular lymphocyte infiltrations in the adjacent medulla
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• bladder wall is thinner because of the severe distension and the submucosal layer contains some focal lymphocyte infiltrations in homozygous males, while the urothelium and renal function appear normal
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• severely distended in males and mildly distended in females
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muscle
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• maximal contraction of ileal smooth muscle in response to carbachol, but not KCl, is decreased by 77% in males and by 72% in females
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• contractility of the detrusor muscles by carbachol, but not KCl, stimulation is decreased to only 5% of that seen in wild-type
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digestive/alimentary system
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• salivary secretion is abolished in response to pilocarpine but not to isoproterenol, a beta-adrenergic agonist
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endocrine/exocrine glands
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• salivary secretion is abolished in response to pilocarpine but not to isoproterenol, a beta-adrenergic agonist
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homeostasis/metabolism
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• salivary secretion is abolished in response to pilocarpine but not to isoproterenol, a beta-adrenergic agonist
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| megacystis-microcolon-intestinal hypoperistalsis syndrome | DOID:0060610 |
OMIM:155310 |
J:64069 | |
