Phenotypes associated with this allele

• Allele Symbol: Slc12a2^em1Dlp
• Allele Name: endonuclease-mediated mutation 1, Eric Delpire
• Allele ID: MGI:6197529
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc12a2^em1Dlp/Slc12a2^em1Dlp	B6.Cg-Slc12a2^em1Dlp	MGI:6460107
hm2	Slc12a2^em1Dlp/Slc12a2^em1Dlp	involves: C57BL/6J * DBA/2J	MGI:6460109
ht3	Slc12a2^em1Dlp/Slc12a2^+	involves: C57BL/6J * DBA/2J	MGI:6460108
ht4	Slc12a2^em1Dlp/Slc12a2^+	Not Specified	MGI:6197755

Genotype
MGI:6460107

hm1

• Allelic Composition: Slc12a2^em1Dlp/Slc12a2^em1Dlp
• Genetic Background: B6.Cg-Slc12a2^em1Dlp

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

mortality/aging

premature death ( J:285398 )

• Background Sensitivity: mice on a congenic C57BL/6J background show decreased survival than on a mixed C57BL/6J and DBA/2J background with no mice surviving past P30

preweaning lethality, incomplete penetrance ( J:285398 )

• Background Sensitivity: mice on a congenic C57BL/6J background show decreased survival than on a mixed C57BL/6 and DBA/2 background, with mice starting to die around P15 and none surviving past P30

digestive/alimentary system

gastrointestinal hemorrhage ( J:285398 )

• blood is seen in the intestine

abnormal intestine morphology ( J:285398 )

• intestine shows tissue shrinkage

cardiovascular system

gastrointestinal hemorrhage ( J:285398 )

• blood is seen in the intestine

Genotype
MGI:6460109

hm2

• Allelic Composition: Slc12a2^em1Dlp/Slc12a2^em1Dlp
• Genetic Background: involves: C57BL/6J * DBA/2J

mortality/aging

premature death ( J:285398 )

• Background Sensitivity: mice on the mixed C57BL/6J and DBA/2J background survive the periweaning period and live for several months compared to mice on a congenic C57BL/6J mice which die before or shortly after weaning

digestive/alimentary system

decreased feces water content ( J:285398 )

• reduction in water content in feces

abnormal intestinal mucosa morphology ( J:285398 )

• the mucus layer in the colon appears thinner and occasionally discontinued

• the number of mucin layers is almost absent in the colon

decreased colon goblet cell number ( J:285398 )

• small, but significant, decrease in goblet cell number in the colon

decreased intestinal mucosa thickness ( J:285398 )

• the mucus layer in the colon appears thinner

• thickness of the inner mucus layer is reduced

abnormal digestive system physiology ( J:285398 )

• commensal bacteria penetrate the inner mucus layer and are detected in the mucosa and submucosa of the intestine and are increased in number indicating impaired gut barrier function; bacteria infiltration occurs at segments where the inner and outer mucus layers are not formed properly and bacteria are seen inside and close to epithelial cells

abnormal intestinal transit time ( J:285398 )

• mice show a delay in gastrointestinal transit time

abnormal intestine physiology ( J:285398 )

• mice show a deficit in water secretion in the intestine

abnormal intestinal goblet cell physiology ( J:285398 )

• mice show abnormal goblet cell mucus granule exocytosis

large intestinal inflammation ( J:285398 )

• small, but significant, increase in CD3+ lymphocytes in the colon indicating low inflammation

endocrine/exocrine glands

decreased colon goblet cell number ( J:285398 )

• small, but significant, decrease in goblet cell number in the colon

abnormal mucous gland physiology ( J:285398 )

• colon submucosal glands secrete mucus that remains attached to the epithelium

hematopoietic system

increased lymphocyte cell number ( J:285398 )

• small, but significant, increase in CD3+ lymphocytes in the colon indicating low inflammation; this is localized in isolated regions of the intestine

immune system

large intestinal inflammation ( J:285398 )

• small, but significant, increase in CD3+ lymphocytes in the colon indicating low inflammation

increased lymphocyte cell number ( J:285398 )

• small, but significant, increase in CD3+ lymphocytes in the colon indicating low inflammation; this is localized in isolated regions of the intestine

increased susceptibility to bacterial infection ( J:285398 )

• mice show decreased clearance of enteric Citrobacter rodentium infection with an aggravated inflammatory response to infection indicating a reduced ability of the intestine to clear bacterial infections

cellular

decreased colon goblet cell number ( J:285398 )

• small, but significant, decrease in goblet cell number in the colon

abnormal intestinal goblet cell physiology ( J:285398 )

• mice show abnormal goblet cell mucus granule exocytosis

abnormal exocytosis ( J:285398 )

• mice show defective goblet cell mucus exocytosis leading to secretion of intact mucin granules into the lumen of the large intestine, mucin granules abnormally plugging the apical membrane, and intact mucin granules floating in the lumen of the large intestine

Genotype
MGI:6460108

ht3

• Allelic Composition: Slc12a2^em1Dlp/Slc12a2⁺
• Genetic Background: involves: C57BL/6J * DBA/2J

digestive/alimentary system

decreased feces water content ( J:285398 )

• reduction in water content in feces

abnormal intestinal mucosa morphology ( J:285398 )

• the mucus layer in the colon appears thinner and occasionally discontinued

• the number of mucin layers is reduced in the colon

decreased intestinal mucosa thickness ( J:285398 )

• thickness of the inner mucus layer is reduced

abnormal digestive system physiology ( J:285398 )

• commensal bacteria penetrate the inner mucus layer and are detected in the mucosa and submucosa and are increased in number indicating impaired gut barrier function; bacteria infiltration occurs at segments where the inner and outer mucus layers are not formed properly and bacteria are seen inside and close to epithelial cells

abnormal intestine physiology ( J:285398 )

• mice show a deficit in water secretion in the intestine

cellular

abnormal exocytosis ( J:285398 )

• mice show defective goblet cell mucus exocytosis leading to secretion of intact mucin granules into the lumen of the large intestine, mucin granules abnormally plugging the apical membrane, and intact mucin granules floating in the lumen of the large intestine

immune system

increased susceptibility to bacterial infection ( J:285398 )

• mice show decreased clearance of enteric Citrobacter rodentium infection indicating a reduced ability of the intestine to clear bacterial infections

Genotype
MGI:6197755

ht4

• Allelic Composition: Slc12a2^em1Dlp/Slc12a2⁺
• Genetic Background: Not Specified

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:264250 )

N • mice exhibit normal pilocarpine-stimulated saliva secretion