Phenotypes Associated with This Genotype

Genotype
MGI:3576258

• Allelic Composition: B2m^tm1Unc/B2m^tm1Unc; Il2^tm1Hor/Il2^tm1Hor
• Genetic Background: involves: 129 * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

immune system

colitis ( J:39981 , J:51450 )

• colitis progresses faster in these mice compared to mice with targeted mutations of just the Il2 gene (J:39981)

• 75% have colitis at 6-12 months of age (J:51450)

abnormal CD4-positive T cell differentiation ( J:39981 )

• T cells isolated from lymph nodes and the colon have markers indicating an activated or memory-like phenotype

abnormal CD8-positive, alpha beta T cell morphology ( J:51450 )

• mesenteric lymph nodes do not contain CD8+ T cells

abnormal CD8 positive, alpha-beta intraepithelial T cell morphology ( J:39981 )

• <1% of CD8 T cells found in the intestinal mucosa

abnormal CD8-positive, alpha-beta cytotoxic T cell morphology ( J:39981 )

• <1% of CD8 T cells found

abnormal CD4-positive, alpha-beta T cell physiology ( J:51450 )

• chronically activated CD4+ T cells in the mesenteric lymph node and lamina propria lymphocyte compartments

• increased IFN-gamma production by CD4+ T cells in the mesenteric lymph node and lamina propria lymphocyte compartments of colitic double mutants

digestive/alimentary system

diarrhea ( J:39981 , J:51450 )

• 70% of mice exhibit this by 15 weeks of age, compared to 25% of mice to mice with targeted mutations of just the Il2 gene (J:39981)

rectal prolapse ( J:51450 )

• several mutants develop rectal prolapse

increased intestinal adenocarcinoma incidence ( J:51450 )

• 29% incidence of adenocarcinomas in the proximal half of the colon

• most mutants with tumors were between 6-8 months old and no tumors seen at 6 months or younger

• tumors are well to moderately differentiated, invading into or through the muscularis propria with a surrounding desmoplastic stromal response

colitis ( J:39981 , J:51450 )

• colitis progresses faster in these mice compared to mice with targeted mutations of just the Il2 gene (J:39981)

• 75% have colitis at 6-12 months of age (J:51450)

neoplasm

increased intestinal adenocarcinoma incidence ( J:51450 )

• 29% incidence of adenocarcinomas in the proximal half of the colon

• most mutants with tumors were between 6-8 months old and no tumors seen at 6 months or younger

• tumors are well to moderately differentiated, invading into or through the muscularis propria with a surrounding desmoplastic stromal response

growth/size/body

cachexia ( J:39981 , J:51450 )

• 70% of mice exhibit this by 15 weeks of age, compared to 25% of homozygote mice with targeted mutations of just the Il2 gene (J:39981)

hematopoietic system

abnormal CD4-positive T cell differentiation ( J:39981 )

• T cells isolated from lymph nodes and the colon have markers indicating an activated or memory-like phenotype

abnormal CD8-positive, alpha beta T cell morphology ( J:51450 )

• mesenteric lymph nodes do not contain CD8+ T cells

abnormal CD8 positive, alpha-beta intraepithelial T cell morphology ( J:39981 )

• <1% of CD8 T cells found in the intestinal mucosa

abnormal CD8-positive, alpha-beta cytotoxic T cell morphology ( J:39981 )

• <1% of CD8 T cells found

abnormal CD4-positive, alpha-beta T cell physiology ( J:51450 )

• chronically activated CD4+ T cells in the mesenteric lymph node and lamina propria lymphocyte compartments

• increased IFN-gamma production by CD4+ T cells in the mesenteric lymph node and lamina propria lymphocyte compartments of colitic double mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
inflammatory bowel disease		DOID:0050589	OMIM:PS266600	J:51450