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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Efstm1Kale
targeted mutation 1, Konstantina Alexandropoulos
MGI:3611072
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Efstm1Kale/Efstm1Kale either: (involves: 129X1/SvJ) or (involves: 129X1/SvJ * C57BL/6J) MGI:3611467
ht2
Efstm1Kale/Efs+ either: (involves: 129X1/SvJ) or (involves: 129X1/SvJ * C57BL/6J) MGI:3611471


Genotype
MGI:3611467
hm1
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 (27 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 J:103757




Genotype
MGI:3611471
ht2
Allelic
Composition
Efstm1Kale/Efs+
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 (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• increase in IgA levels in response to NP-KLH immunization
• increase in total IgG and IgG1 levels in response to NP-KLH immunization
• exhibit enhanced effector immune response
• exhibit shortened, blunt villi, expanded laminae propriae, and enlarged crypts, indicating a lower level of inflammation than in homozygotes

digestive/alimentary system
• exhibit shortened, blunt villi, expanded laminae propriae, and enlarged crypts, indicating a lower level of inflammation than in homozygotes

hematopoietic system
• increase in IgA levels in response to NP-KLH immunization
• increase in total IgG and IgG1 levels in response to NP-KLH immunization





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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
04/23/2024
MGI 6.23
The Jackson Laboratory