Phenotypes Associated with This Genotype

Genotype
MGI:5007929

• Allelic Composition: Mefv^{tm5.1(MEFV)Chae}/Mefv^{tm5.1(MEFV)Chae}
• Genetic Background: B6.129S6-Mefv^{tm5.1(MEFV)Chae}

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

mortality/aging

postnatal lethality, complete penetrance ( J:172117 )

• mice die between 2 and 3 weeks of age

immune system

enlarged spleen ( J:172117 )

decreased lymphocyte cell number ( J:172117 )

decreased B cell number ( J:172117 )

decreased T cell number ( J:172117 )

increased leukocyte cell number ( J:172117 )

• mice exhibit increased CD11b+ cells in the spleen, bone marrow, peripheral blood, and lymph nodes compared with wild-type mice

increased granulocyte number ( J:172117 )

increased neutrophil cell number ( J:172117 )

increased macrophage cell number ( J:172117 )

increased monocyte cell number ( J:172117 )

abnormal spleen germinal center morphology ( J:172117 )

• with infiltration of inflammatory cells

increased circulating interleukin-1 beta level ( J:172117 )

increased circulating interleukin-6 level ( J:172117 )

increased circulating tumor necrosis factor level ( J:172117 )

enlarged lymph nodes ( J:172117 )

abnormal cytokine secretion ( J:172117 )

• activated T cells exhibit increased secretion of IL1a, IL1b, IL2, IL3, IL4, IL5, IL9, IL10, IL12b, IL12, IL13, IL17, IFN-gamma, G-CSF, MIP1alpha, KC, GM-CSF, MCP-1, and MIP1beta compared with activated T cells from wild-type mice

increased interferon-gamma secretion ( J:172117 )

• in activated T cells

increased interleukin-1 alpha secretion ( J:172117 )

• in activated T cells

increased interleukin-1 beta secretion ( J:172117 )

• in activated T cells

increased interleukin-10 secretion ( J:172117 )

• in activated T cells

increased interleukin-12 secretion ( J:172117 )

• in activated T cells

increased interleukin-12b secretion ( J:172117 )

• in activated T cells

increased interleukin-13 secretion ( J:172117 )

• in activated T cells

increased interleukin-17 secretion ( J:172117 )

• in activated T cells

increased interleukin-2 secretion ( J:172117 )

• in activated T cells

decreased interleukin-3 secretion ( J:172117 )

• in activated T cells

increased interleukin-4 secretion ( J:172117 )

• in activated T cells

increased interleukin-5 secretion ( J:172117 )

• in activated T cells

increased interleukin-9 secretion ( J:172117 )

• in activated T cells

increased inflammatory response ( J:172117 )

• mice exhibit inflammation in the skin, liver, joint, and bone marrow with infiltration of leukocytes (mainly neutrophils and macrophages) compared with wild-type mice

• inflammatory phenotypes are more severe than in Mefv^{tm3.1(MEFV)Chae} homozygotes and Mefv^{tm4.1(MEFV)Chae} homozygotes

joint inflammation ( J:172117 )

autoimmune arthritis ( J:172117 )

liver inflammation ( J:172117 )

skin inflammation ( J:172117 )

dermatitis ( J:172117 )

growth/size/body

decreased body size ( J:172117 )

• as early as 1 week of age

decreased body weight ( J:172117 )

cachexia ( J:172117 )

postnatal growth retardation ( J:172117 )

• severe

enlarged spleen ( J:172117 )

homeostasis/metabolism

increased circulating interleukin-1 beta level ( J:172117 )

increased circulating interleukin-6 level ( J:172117 )

increased circulating tumor necrosis factor level ( J:172117 )

integument

skin inflammation ( J:172117 )

dermatitis ( J:172117 )

scaly skin ( J:172117 )

• as early as 1 week of age

liver/biliary system

liver inflammation ( J:172117 )

skeleton

joint inflammation ( J:172117 )

autoimmune arthritis ( J:172117 )

hematopoietic system

enlarged spleen ( J:172117 )

anemia ( J:172117 )

decreased lymphocyte cell number ( J:172117 )

decreased B cell number ( J:172117 )

decreased T cell number ( J:172117 )

increased leukocyte cell number ( J:172117 )

• mice exhibit increased CD11b+ cells in the spleen, bone marrow, peripheral blood, and lymph nodes compared with wild-type mice

increased granulocyte number ( J:172117 )

increased neutrophil cell number ( J:172117 )

increased macrophage cell number ( J:172117 )

increased monocyte cell number ( J:172117 )

abnormal spleen germinal center morphology ( J:172117 )

• with infiltration of inflammatory cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial Mediterranean fever		DOID:2987	OMIM:134610 OMIM:249100	J:172117