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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Slc12a2em1Dlp
endonuclease-mediated mutation 1, Eric Delpire
MGI:6197529
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Slc12a2em1Dlp/Slc12a2em1Dlp B6.Cg-Slc12a2em1Dlp MGI:6460107
hm2
 		Slc12a2em1Dlp/Slc12a2em1Dlp involves: C57BL/6J * DBA/2J MGI:6460109
ht3
 		Slc12a2em1Dlp/Slc12a2+ involves: C57BL/6J * DBA/2J MGI:6460108
ht4
 		Slc12a2em1Dlp/Slc12a2+ Not Specified MGI:6197755


Genotype
MGI:6460107
hm1
Allelic
Composition		 Slc12a2em1Dlp/Slc12a2em1Dlp
Genetic
Background		 B6.Cg-Slc12a2em1Dlp
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc12a2em1Dlp mutation (0 available); any Slc12a2 mutation (58 available)
♀ 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		 Slc12a2em1Dlp/Slc12a2em1Dlp
Genetic
Background		 involves: C57BL/6J * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc12a2em1Dlp mutation (0 available); any Slc12a2 mutation (58 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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
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 feces composition ( J:285398 )
• reduction in water content in feces
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		 Slc12a2em1Dlp/Slc12a2+
Genetic
Background		 involves: C57BL/6J * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc12a2em1Dlp mutation (0 available); any Slc12a2 mutation (58 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
digestive/alimentary system
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 feces composition ( J:285398 )
• reduction in water content in feces
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		 Slc12a2em1Dlp/Slc12a2+
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc12a2em1Dlp mutation (0 available); any Slc12a2 mutation (58 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
homeostasis/metabolism phenotype ( J:264250 )
N
• mice exhibit normal pilocarpine-stimulated saliva secretion




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Send questions and comments to User Support. 		last database update
04/30/2024
MGI 6.23 		The Jackson Laboratory