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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sulf2tm1.1Cpe
targeted mutation 1.1, Charles P Emerson, Jr
MGI:3722946
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Sulf2tm1.1Cpe/Sulf2tm1.1Cpe B6.Cg-Sulf2tm1.1Cpe MGI:3723063
cx2
Sulf1tm1.1Cpe/Sulf1tm1.1Cpe
Sulf2tm1.1Cpe/Sulf2tm1.1Cpe
involves: 129S/SvEv * C57BL/6 MGI:3723064


Genotype
MGI:3723063
hm1
Allelic
Composition
Sulf2tm1.1Cpe/Sulf2tm1.1Cpe
Genetic
Background
B6.Cg-Sulf2tm1.1Cpe
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sulf2tm1.1Cpe mutation (0 available); any Sulf2 mutation (177 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• 1% to 2% of mice exhibit megaesophagus

growth/size/body
• 1% to 2% of mice exhibit megaesophagus
• mice weigh 10% less than wild-type mice




Genotype
MGI:3723064
cx2
Allelic
Composition
Sulf1tm1.1Cpe/Sulf1tm1.1Cpe
Sulf2tm1.1Cpe/Sulf2tm1.1Cpe
Genetic
Background
involves: 129S/SvEv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sulf1tm1.1Cpe mutation (0 available); any Sulf1 mutation (112 available)
Sulf2tm1.1Cpe mutation (0 available); any Sulf2 mutation (177 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice begin to die at P14 and only 45% of mice survive into adulthood

reproductive system
• mice display reduced fertility

digestive/alimentary system
• 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
• 60% of mice exhibit megaesophagus characterized by food accumulating in the esophagus, coughing, labored breathing and lung infection
• esophageal smooth muscle contractility induced by carbachol is greatly reduced and that induced by high potassium, ATP and histamine is partially reduced

nervous system
• at P15 and in adults mice, the number of glial cells in the esophagus is one third of that found in wild-type mice
• 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

muscle
• esophageal smooth muscle contractility induced by carbachol is greatly reduced and that induced by high potassium, ATP and histamine is partially reduced

growth/size/body
• 60% of mice exhibit megaesophagus characterized by food accumulating in the esophagus, coughing, labored breathing and lung infection
• mice that survive into adulthood are runted
• as early as P3, mice exhibit a postnatal growth retardation likely due to a defect in esophagus innervation

respiratory system
• 60% of mice exhibit labored breathing associated with megaesophagus
• 60% of mice exhibit coughing associated with megaesophagus





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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory