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Phenotypes Associated with This Genotype
Genotype
MGI:6460108
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
• reduction in water content in feces
• the mucus layer in the colon appears thinner and occasionally discontinued
• the number of mucin layers is reduced in the colon
• thickness of the inner mucus layer is reduced
• 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
• mice show a deficit in water secretion in the intestine

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


Contributing Projects:
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
03/18/2025
MGI 6.24
The Jackson Laboratory