Phenotypes Associated with This Genotype

Genotype
MGI:3531186

• Allelic Composition: Nod2^tm1Mka/Nod2^tm1Mka
• Genetic Background: involves: C57BL/6

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

mortality/aging

increased susceptibility to xenobiotic induced morbidity/mortality ( J:96128 )

• treatment with DSS for 6 days resulted in a 37.5% mortality rate compared to 0% in wild-type

digestive/alimentary system

increased susceptibility to induced colitis ( J:96128 )

• after DSS treatment to expose the lamina propria to enteric bacteria, severity and extent of inflammatory lesions in the colon was significantly greater with larger areas of ulceration and increased infiltration of F4/80+ macrophages than in wild-type

growth/size/body

weight loss ( J:96128 )

• after 8 days, greater body weight loss than in wild-type after treatment with DSS to induce intestinal inflammation, however surviving mice regained body weight after day 11

hematopoietic system

abnormal macrophage morphology ( J:96128 )

• increased numbers of apoptotic macrophages in the lamina propria of the colon compared to wild-type after DSS treatment

immune system

increased susceptibility to induced colitis ( J:96128 )

• after DSS treatment to expose the lamina propria to enteric bacteria, severity and extent of inflammatory lesions in the colon was significantly greater with larger areas of ulceration and increased infiltration of F4/80+ macrophages than in wild-type

abnormal macrophage morphology ( J:96128 )

• increased numbers of apoptotic macrophages in the lamina propria of the colon compared to wild-type after DSS treatment

abnormal cytokine level ( J:96128 )

• elevated levels of IL-6 in colons of DSS treated mutants

• elevated IL-1beta concentrations and NF-kappaB (Nfkb1) activity after dextran sodium sulfate (DSS) treatment which kills mucosal epithelial cells and causes bacterial infection

increased interleukin-1 beta secretion ( J:96128 )

• bacteria-derived muramyl dipeptide (MDP) induced an increase in IL-1beta secretion and NF-kappaB (Nfkb1) activation in mutant bone marrow-derived macrophages and a modest elevation of IL-1alpha secretion compared to wild-type

homeostasis/metabolism

abnormal cytokine level ( J:96128 )

• elevated levels of IL-6 in colons of DSS treated mutants

• elevated IL-1beta concentrations and NF-kappaB (Nfkb1) activity after dextran sodium sulfate (DSS) treatment which kills mucosal epithelial cells and causes bacterial infection

increased susceptibility to xenobiotic induced morbidity/mortality ( J:96128 )

• treatment with DSS for 6 days resulted in a 37.5% mortality rate compared to 0% in wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
inflammatory bowel disease 1		DOID:0110892	OMIM:266600	J:96128