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Allele Symbol Allele Name Allele ID |
Sulf2tm1.1Cpe targeted mutation 1.1, Charles P Emerson, Jr MGI:3722946 |
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| Summary |
2 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 1% to 2% of mice exhibit megaesophagus
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• 1% to 2% of mice exhibit megaesophagus
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• mice weigh 10% less than wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice begin to die at P14 and only 45% of mice survive into adulthood
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• mice display reduced fertility
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• some adult mice exhibit dilation of the muscle layers and esophageal epithelium
• at P15, the lumen of the esophagus is increased by 20% compared to wild-type mice
• in adults, the lumen of the esophagus is almost double the size of that in wild-type mice
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• 60% of mice exhibit megaesophagus characterized by food accumulating in the esophagus, coughing, labored breathing and lung infection
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• esophageal smooth muscle contractility induced by carbachol is greatly reduced and that induced by high potassium, ATP and histamine is partially reduced
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• at P15 and in adults mice, the number of glial cells in the esophagus is one third of that found in wild-type mice
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• at E18.5, neurite sprouting and innervation density in esophageal tissue is reduced
• reduced innervation persists postnatally and into adulthood
• esophageal explants from E11.5 embryos fail to extend neuritis when treated with 10 ng/ml GDNF and only extend half the number of neuritis that wild-type explants do at 20 ng/ml of GDNF
• however, explants treated with 10 mg/ml GDNF have the same number of intrinsic neurons as controls
• no neurons migrate out of explants after GDNF treatment compared to a few in treated wild-type explants
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• esophageal smooth muscle contractility induced by carbachol is greatly reduced and that induced by high potassium, ATP and histamine is partially reduced
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• 60% of mice exhibit megaesophagus characterized by food accumulating in the esophagus, coughing, labored breathing and lung infection
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• mice that survive into adulthood are runted
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• as early as P3, mice exhibit a postnatal growth retardation likely due to a defect in esophagus innervation
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• 60% of mice exhibit labored breathing associated with megaesophagus
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/30/2024 MGI 6.23 |
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