mortality/aging
• mice often die within 2 days of birth with about 50% lost prior to weaning
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endocrine/exocrine glands
• increased concentration of sodium and chloride and decreased concentration of potassium in saliva
• however, the volume of saliva secreted is similar to controls
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• expression of duct differentiation markers is reduced or lost in the submandibular, sublingual, parotid, and nasal glands
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• expression of duct differentiation markers is reduced or lost in the nasal glands
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• defects are observed after E16
• at E18, luminal cells of the duct are shorter in the apico-basal direction, the apical structure does not fully develop and a wider lumen forms
• duct epithelial cells fail to properly differentiate and duct structure is not well developed
• cell shapes characteristic of striated and excretory ducts and granular convoluted tubules are not seen
• however, formation of adherens and tight junction is normal and acini cells are normal
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renal/urinary system
• net chloride excretion/day is 20.6 +/- 7.8 compared to 11.2 +/- 4.4 in controls
• however, urine chloride concentration is similar to controls, possibly due to an inability to concentrate urine in the mutant kidney
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• net potassium excretion/day is 14.5 +/- 4.1 compared to 10.1 +/- 2.9 in controls
• however, urine potassium concentration is similar to controls, possibly due to an inability to concentrate urine in the mutant kidney
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• net sodium excretion/day is 12.1 +/- 4.1 compared to 7.0 +/- 2.0 in controls
• however, urine sodium concentrations are similar to wild-type, possibly due to an inability to concentrate urine in the mutant kidney
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• collecting duct intercalating cells do not differentiate properly
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• occasionally kidneys are hypoplastic
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• abnormalities in maturation
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• differentiation of distal convoluted tubule cells is impaired
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• net urine volume is 0.11 +/- 0.034 ml/day.g compared to 0.057 +/- 0.015 ml/day.g in controls
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growth/size/body
• expression of duct differentiation markers is reduced or lost in the nasal glands
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• early postnatal growth is retarded
• however, mice that survive past weaning recover 80% to 90% weight of the wild-type mice
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digestive/alimentary system
• defects are observed after E16
• at E18, luminal cells of the duct are shorter in the apico-basal direction, the apical structure does not fully develop and a wider lumen forms
• duct epithelial cells fail to properly differentiate and duct structure is not well developed
• cell shapes characteristic of striated and excretory ducts and granular convoluted tubules are not seen
• however, formation of adherens and tight junction is normal and acini cells are normal
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• increased concentration of sodium and chloride and decreased concentration of potassium in saliva
• however, the volume of saliva secreted is similar to controls
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homeostasis/metabolism
• net chloride excretion/day is 20.6 +/- 7.8 compared to 11.2 +/- 4.4 in controls
• however, urine chloride concentration is similar to controls, possibly due to an inability to concentrate urine in the mutant kidney
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• net potassium excretion/day is 14.5 +/- 4.1 compared to 10.1 +/- 2.9 in controls
• however, urine potassium concentration is similar to controls, possibly due to an inability to concentrate urine in the mutant kidney
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• net sodium excretion/day is 12.1 +/- 4.1 compared to 7.0 +/- 2.0 in controls
• however, urine sodium concentrations are similar to wild-type, possibly due to an inability to concentrate urine in the mutant kidney
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craniofacial
• expression of duct differentiation markers is reduced or lost in the nasal glands
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respiratory system
• expression of duct differentiation markers is reduced or lost in the nasal glands
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