Phenotypes associated with this allele

• Allele Symbol: Sulf1^tm1.1Cpe
• Allele Name: targeted mutation 1.1, Charles P Emerson, Jr
• Allele ID: MGI:3722945
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sulf1^tm1.1Cpe/Sulf1^tm1.1Cpe	B6.Cg-Sulf1^tm1.1Cpe	MGI:3723062
cx2	Sulf1^tm1.1Cpe/Sulf1^tm1.1Cpe Sulf2^tm1.1Cpe/Sulf2^tm1.1Cpe	involves: 129S/SvEv * C57BL/6	MGI:3723064

Genotype
MGI:3723062

hm1

• Allelic Composition: Sulf1^tm1.1Cpe/Sulf1^tm1.1Cpe
• Genetic Background: B6.Cg-Sulf1^tm1.1Cpe

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

normal phenotype

no abnormal phenotype detected ( J:124898 )

• mice are viable, fertile and have a normal life span

Genotype
MGI:3723064

cx2

• Allelic Composition: Sulf1^tm1.1Cpe/Sulf1^tm1.1Cpe; Sulf2^tm1.1Cpe/Sulf2^tm1.1Cpe
• Genetic Background: involves: 129S/SvEv * C57BL/6

mortality/aging

postnatal lethality, incomplete penetrance ( J:124898 )

• mice begin to die at P14 and only 45% of mice survive into adulthood

reproductive system

reduced fertility ( J:124898 )

• mice display reduced fertility

digestive/alimentary system

dilated esophagus ( J:124898 )

• 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

enlarged esophagus ( J:124898 )

• 60% of mice exhibit megaesophagus characterized by food accumulating in the esophagus, coughing, labored breathing and lung infection

abnormal digestive system physiology ( J:124898 )

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

nervous system

abnormal enteric nervous system morphology ( J:124898 )

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

abnormal enteric neuron morphology ( J:124898 )

• 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

impaired smooth muscle contractility ( J:124898 )

• 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

enlarged esophagus ( J:124898 )

• 60% of mice exhibit megaesophagus characterized by food accumulating in the esophagus, coughing, labored breathing and lung infection

decreased body size ( J:124898 )

• mice that survive into adulthood are runted

postnatal growth retardation ( J:124898 )

• as early as P3, mice exhibit a postnatal growth retardation likely due to a defect in esophagus innervation

respiratory system

respiratory distress ( J:124898 )

• 60% of mice exhibit labored breathing associated with megaesophagus

coughing ( J:124898 )

• 60% of mice exhibit coughing associated with megaesophagus