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Phenotypes Associated with This Genotype
Genotype
MGI:3611467
Allelic
Composition
Efstm1Kale/Efstm1Kale
Genetic
Background
either: (involves: 129X1/SvJ) or (involves: 129X1/SvJ * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efstm1Kale mutation (0 available); any Efs mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• significant increase in IgA levels in response to NP-KLH immunization, 3 fold increase in IgA levels in unimmunized mice and an increase in the levels of IL-4 and TGF beta/IL-5 dependent IgA isotype
• significant increase in total IgG and IgG1 levels in response to NP-KLH immunization and an increase in the levels of IL-4 and TGF beta/IL-5 dependent IgG1 isotype
• T cells exhibit enhanced immune responses
• increase in production of IFN-gamma by T cells in response to TCR stimulation
• increase in production of IL-2, IL-4, and IL-5 by T cells in response to TCR stimulation
• exhibit enhanced effector immune response, however T and B cell development is normal
• duodenum/proximal jejunum exhibits crypt hyperplasia, marked lymphocytic infiltration of the lamina propria, and moderate to severe villus destruction
• 60% exhibit ileum inflammation and display expansion of the lamina propria, crypt enlargement, and altered epithelial cell morphology or damage
• inflammatory infiltrates consist of T and plasma B cells
• 70% exhibit inflammatory infiltrates in the liver consisting of infiltrates present around hepatic vessels and granulomas arising as multiple foci within the parenchyma
• lung is less affected than intestine, kidney, or liver

digestive/alimentary system
• duodenum/proximal jejunum exhibits crypt hyperplasia, marked lymphocytic infiltration of the lamina propria, and moderate to severe villus destruction
• 60% exhibit ileum inflammation and display expansion of the lamina propria, crypt enlargement, and altered epithelial cell morphology or damage
• inflammatory infiltrates consist of T and plasma B cells

liver/biliary system
• 70% exhibit inflammatory infiltrates in the liver consisting of infiltrates present around hepatic vessels and granulomas arising as multiple foci within the parenchyma

renal/urinary system

respiratory system
• lung is less affected than intestine, kidney, or liver

hematopoietic system
• significant increase in IgA levels in response to NP-KLH immunization, 3 fold increase in IgA levels in unimmunized mice and an increase in the levels of IL-4 and TGF beta/IL-5 dependent IgA isotype
• significant increase in total IgG and IgG1 levels in response to NP-KLH immunization and an increase in the levels of IL-4 and TGF beta/IL-5 dependent IgG1 isotype
• T cells exhibit enhanced immune responses

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Crohn's disease DOID:8778 OMIM:266600
J:103757


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/05/2019
MGI 6.13
The Jackson Laboratory