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Phenotypes Associated with This Genotype
Genotype
MGI:3047403
Allelic
Composition
Gnai2tm1Lbi/Gnai2tm1Lbi
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnai2tm1Lbi mutation (1 available); any Gnai2 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mean age of death is 20 weeks
• death sometime between E14 and 4 weeks of age

neoplasm
• tumors were largely confined to the large intestine with none being observed in the small intestine

digestive/alimentary system
• with heavy chronic infiltration of lymphocytes and active plasma cells
• loss of mucus from goblet cells of crypts, atypia and loss of crypts
• glands regenerate with typical characteristics of adenocarcinomas as well as penetrating the submucosa and extending to the smooth muscle layer
• colons were irregularly dilated and had focally thickened and inflamed walls (J:24434)
• the small intestines were unaffected (J:24434)
• at necropsy walls are focally thickened (J:30507)
• at necropsy colons are dilated
• tumors were largely confined to the large intestine with none being observed in the small intestine
• seen in 21 of 26 mice
• inflammation is restricted to the rectum and colon
• diffuse but not patchy pattern of inflammation resembles ulcerative colitis
• exhibited by all mice by 13 weeks of age
• chronic active inflammation with the distal colon being most affected
• serosal discoloration and increased vascularity are also observed at necropsy
• perforation and peritonitis are present at necropsy

immune system
• at 8 weeks, the spleen contain a significantly larger number of granulocytes compared to wild-type mice
• 3-fold increase in CD3+ cells
• 2- to 4-fold increase in single positive thymocytes
• proliferative response to phorbol myristate acetate (PMA), staphylococcal enterotoxin A (SEA) and BABL/c(H-2s) is increased by 3- to 5-fold
• myeloperoxidase (MPO) levels from neutrophils are significantly lower than in wild-type at the site of infection
• however, neutrophil function is normal and serum taken from immunized mice is able to confer immunity to nae wild-type mice
• twice as high as in wild-type mice
• twice as high as in wild-type mice
• markedly elevated in the large intestine but only modestly so in the small intestine
• IFN-gamma levels in non-immunized and immunized mice are increased compared to immunized wild-type mice
• IL-4 levels are significantly higher after immunization against S. stercorallis
• IL-5 levels are significantly higher after immunization against S. stercorallis
• stimulated spleen and lymph node T cells and thymocytes produce several fold more INF-gamma
• stimulated spleen and lymph node T cells and thymocytes produce several fold more IL-2
• however, IL-4 production from stimulated spleen and lymph node T cells and thymocytes is only modestly enhanced if at all
• stimulated spleen and lymph node T cells and thymocytes produce several fold more TNF
• seen in 21 of 26 mice
• inflammation is restricted to the rectum and colon
• diffuse but not patchy pattern of inflammation resembles ulcerative colitis
• exhibited by all mice by 13 weeks of age
• chronic active inflammation with the distal colon being most affected
• serosal discoloration and increased vascularity are also observed at necropsy
• perforation and peritonitis are present at necropsy
• following immunization and exposure to S. stercorallis, mice have decreased larval killing of 37% compared to 91% in wild-type mice
• IL-4 and IL-5 levels are significantly higher after immunization against S. stercorallis
• fewer neutrophils, eosinophils, macrophages, and lymphocytes are recruited into the site of infection
• myeloperoxidase (MPO) levels from neutrophils are significantly lower than in wild-type at the site of infection
• however, serum taken from immunized mice is able to confer immunity to nae wild-type mice

growth/size/body
• at 6 weeks, mice gain weight slower
• at 6 weeks, mice gain weight slower

homeostasis/metabolism
• IFN-gamma levels in non-immunized and immunized mice are increased compared to immunized wild-type mice
• IL-4 levels are significantly higher after immunization against S. stercorallis
• IL-5 levels are significantly higher after immunization against S. stercorallis
• response to prostoglandin E and nicotinic acid is blunted about 50%
• inhibition of adenylyl cyclase in response to phenylisopropyl adenosine or carbachol is blunted about 50%
• proliferative response to phorbol myristate acetate (PMA), staphylococcal enterotoxin A (SEA) and BABL/c(H-2s) is increased by 3- to 5-fold

hematopoietic system
• proliferative response to phorbol myristate acetate (PMA), staphylococcal enterotoxin A (SEA) and BABL/c(H-2s) is increased by 3- to 5-fold
• at 8 weeks, the spleen contain a significantly larger number of granulocytes compared to wild-type mice
• 3-fold increase in CD3+ cells
• 2- to 4-fold increase in single positive thymocytes
• myeloperoxidase (MPO) levels from neutrophils are significantly lower than in wild-type at the site of infection
• however, neutrophil function is normal and serum taken from immunized mice is able to confer immunity to nae wild-type mice
• twice as high as in wild-type mice
• twice as high as in wild-type mice
• markedly elevated in the large intestine but only modestly so in the small intestine

endocrine/exocrine glands
• loss of mucus from goblet cells of crypts, atypia and loss of crypts
• glands regenerate with typical characteristics of adenocarcinomas as well as penetrating the submucosa and extending to the smooth muscle layer

cellular
• proliferative response to phorbol myristate acetate (PMA), staphylococcal enterotoxin A (SEA) and BABL/c(H-2s) is increased by 3- to 5-fold

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
inflammatory bowel disease 12 DOID:0110887 OMIM:612241
J:24434 , J:30507


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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
04/16/2024
MGI 6.23
The Jackson Laboratory