All Phenotypes Mefv<tm5.1(MEFV)Chae> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mefv^{tm5.1(MEFV)Chae}/Mefv^{tm5.1(MEFV)Chae}	B6.129S6-Mefv^{tm5.1(MEFV)Chae}	MGI:5007929
ht2	Mefv^{tm5.1(MEFV)Chae}/Mefv⁺	B6.129S6-Mefv^{tm5.1(MEFV)Chae}	MGI:5007928
ht3	Mefv^{tm5.1(MEFV)Chae}/Mefv^tm6Chae	B6.129S6-Mefv^{tm5.1(MEFV)Chae}/Mefv^tm6Chae	MGI:5007936
cx4	Il1r1^tm1Roml/Il1r1^tm1Roml Mefv^{tm5.1(MEFV)Chae}/Mefv^{tm5.1(MEFV)Chae}	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6	MGI:5007930
cx5	Mefv^{tm5.1(MEFV)Chae}/Mefv^{tm5.1(MEFV)Chae} Pycard^tm1Tno/Pycard^tm1Tno	involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6	MGI:5007932
cx6	Mefv^{tm5.1(MEFV)Chae}/Mefv^{tm5.1(MEFV)Chae} Rag1^tm1Mom/Rag1^tm1Mom	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6	MGI:5007931
cx7	Mefv^{tm5.1(MEFV)Chae}/Mefv^{tm5.1(MEFV)Chae} Nlrp3^tm1Tsc/Nlrp3^tm1Tsc	involves: 129S6/SvEvTac * C57BL/6	MGI:5007933

♀	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 )

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 )

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mefv^{tm5.1(MEFV)Chae} mutation (0 available); any Mefv mutation (44 available)

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

normal phenotype

no abnormal phenotype detected ( J:172117 )

• mice are healthy

Allelic Composition	Mefv^{tm5.1(MEFV)Chae}/Mefv^tm6Chae
Genetic Background	B6.129S6-Mefv^{tm5.1(MEFV)Chae}/Mefv^tm6Chae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mefv^{tm5.1(MEFV)Chae} mutation (0 available); any Mefv mutation (44 available)
Mefv^tm6Chae mutation (0 available); any Mefv mutation (44 available)

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

normal phenotype

no abnormal phenotype detected ( J:172117 )

• mice are grossly normal

Allelic Composition	Il1r1^tm1Roml/Il1r1^tm1Roml Mefv^{tm5.1(MEFV)Chae}/Mefv^{tm5.1(MEFV)Chae}
Genetic Background	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Il1r1^tm1Roml mutation (2 available); any Il1r1 mutation (39 available)
Mefv^{tm5.1(MEFV)Chae} mutation (0 available); any Mefv mutation (44 available)

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

immune system

immune system phenotype ( J:172117 )

N	• mice do not exhibit inflammatory phenotypes observed in Mefv^{tm5.1(MEFV)Chae} homozygotes

increased interleukin-1 beta secretion ( J:172117 )

• bone marrow CD11b+ cells and bone marrow-derived dendritic cells secrete IL1beta when stimulated with LPS alone, unlike wild-type cells

Allelic Composition	Mefv^{tm5.1(MEFV)Chae}/Mefv^{tm5.1(MEFV)Chae} Pycard^tm1Tno/Pycard^tm1Tno
Genetic Background	involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mefv^{tm5.1(MEFV)Chae} mutation (0 available); any Mefv mutation (44 available)
Pycard^tm1Tno mutation (0 available); any Pycard mutation (13 available)

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

immune system

immune system phenotype ( J:172117 )

N	• mice do not exhibit inflammatory phenotypes observed in Mefv^{tm5.1(MEFV)Chae} homozygotes

decreased interleukin-1 beta secretion ( J:172117 )

• bone marrow CD11b+ cells stimulated with LPS and ATP fail to secrete IL1beta unlike wild-type cells

growth/size/body

growth/size/body region phenotype ( J:172117 )

N	• mice exhibit normal growth

Allelic Composition	Mefv^{tm5.1(MEFV)Chae}/Mefv^{tm5.1(MEFV)Chae} Rag1^tm1Mom/Rag1^tm1Mom
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mefv^{tm5.1(MEFV)Chae} mutation (0 available); any Mefv mutation (44 available)
Rag1^tm1Mom mutation (49 available); any Rag1 mutation (120 available)

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

immune system

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

increased circulating interleukin-6 level ( J:172117 )

increased circulating tumor necrosis factor level ( J:172117 )

abnormal cytokine secretion ( J:172117 )

• activated T cells secrete less cytokines than in activated T cells from Mefv^{tm5.1(MEFV)Chae} homozygotes but more cytokines than in actiavted T cells from wild-type

• activated T cells exhibit increased secretion of IL1b, IL2, IL4, IL5, IL9, IL10, IL12b, IL12, IL13, IL17, IFN-gamma, RANTES, 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 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-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

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 inflammatory phenotypes observed in Mefv^{tm5.1(MEFV)Chae} homozygotes

growth/size/body

decreased body weight ( 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 )

Allelic Composition	Mefv^{tm5.1(MEFV)Chae}/Mefv^{tm5.1(MEFV)Chae} Nlrp3^tm1Tsc/Nlrp3^tm1Tsc
Genetic Background	involves: 129S6/SvEvTac * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mefv^{tm5.1(MEFV)Chae} mutation (0 available); any Mefv mutation (44 available)
Nlrp3^tm1Tsc mutation (0 available); any Nlrp3 mutation (61 available)

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

immune system

increased interleukin-1 beta secretion ( J:172117 )

• bone marrow CD11b+ cells and bone marrow-derived dendritic cells secrete IL1beta when stimulated with LPS alone, unlike wild-type cells

increased inflammatory response ( J:172117 )

• mice exhibit inflammatory phenotypes observed in Mefv^{tm5.1(MEFV)Chae} homozygotes

growth/size/body

decreased body weight ( J:172117 )

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