mortality/aging
• homozygous animals that survive past weaning stage die 6-8 weeks later
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• 40% of homozygous animals die within 3 days of birth from unknown causes
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growth/size/body
• mice that survive past weaning stage are growth impaired with mean weight at 40% of controls
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• cortical cysts seen in one kidney
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• stomach and/or bowel is distended in 3 of 4 mice
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renal/urinary system
• cortical cysts seen in one kidney
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• urine is sometimes cloudy with dense accumulation of bacteria and white blood cells
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• calcium deposition is observed in the kidney in 3 of 4 mice
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• necrotic mucosa observed in 3 of 4 mice examined
• bladder mucosa was dysplastic with malignant characteristics in 2 of 4 mice examined
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• in older animals, the bladder often contains numerous urinary stones
• bladder stones consist of magnesium ammonium phosphate hexahydrate (struvite) and calcium phosphate (apatite) with different % of each component in individual mice
• % of struvite ranged from 10% to 100%
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• severe distention
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• nicotine failed to elicit contraction in bladder strips whereas contraction was easily induced in controls
(J:54994)
• contractile responses to nicotine in bladder strips from 2- to 5-day-old mutant mice are severely attenuated
(J:102601)
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• inflamed urinary bladder in 3 of 4 mice examined
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• wetness of the genital area is noted; chronic urinary dribbling is observed throughout life
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vision/eye
• no contraction in response to light
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• small ocular globe in proportion to body size
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• small palpebral fissures
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• eyes remain closed or nearly closed throughout life
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nervous system
N |
• neurotransmitters are released from parasympathetic nerve terminals by direct electical field stimulation suggesting that neurotransmitter release is not impaired
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• profiles of single-channel current recordings from acetylcholinesterase-elicited superior cervial ganglion neurons indicate that fewer channels open and these channels only consist of two defined conductance classes wheras in control neurons, five conductance classes are seen
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• profiles of single-channel current recordings from acetylcholinesterase-elicited superior cervial ganglion neurons indicate that fewer channels open and these channels only consist of two defined conductance classes wheras in control neurons, five conductance classes are seen
|
immune system
• inflamed urinary bladder in 3 of 4 mice examined
|
• urine is sometimes cloudy with a dense accumulation of bacteria and white blood cells
• bacterial cultures indicate infection with organisms including Proteus vulgaris, Staphylococcus xylosus, coagulase-negative Staphylococcus, Staphylococcus aureus, group D Enterococcus spp., and Escherichia coli
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behavior/neurological
• no contraction in response to light
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muscle
N |
• smooth muscle contraction in the urinary bladder can be induced with the muscarinic agonist CCH suggesting normal muscle function
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homeostasis/metabolism
N |
• blood chemistry measurments for glucose, electrolytes, phosphate, calcium, magnesium, urea nitrogen, creatinine, alanine aminotransferase, aspartate aminotransferase, and bilirubin are similar to controls
• urine chemistry measurments for glucose, electrolytes, phosphate, calcium, magnesium, and creatinine are similar to controls
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• urine is sometimes cloudy with dense accumulation of bacteria and white blood cells
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digestive/alimentary system
• stomach is distended in 3 of 4 mice
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