All Phenotypes Ifih1<Rgsc422> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ifih1^Rgsc422/Ifih1^Rgsc422	D2JJcl.B6JJcl-Ifih1^Rgsc422	MGI:5617218
ht2	Ifih1^Rgsc422/Ifih1⁺	D2JJcl.B6JJcl-Ifih1^Rgsc422	MGI:5617219
cx3	Ifih1^Rgsc422/Ifih1⁺ Ifnar1^tm1Agt/Ifnar1⁺	involves: 129S2/SvPas * C57BL/6JJcl * DBA/2JJcl	MGI:5617222
cx4	Ifih1^Rgsc422/Ifih1⁺ Mavs^tm1Aki/Mavs^tm1Aki	involves: C57BL/6JJcl * DBA/2JJcl	MGI:5617220
cx5	Ifih1^Rgsc422/Ifih1⁺ Mavs^tm1Aki/Mavs⁺	involves: C57BL/6JJcl * DBA/2JJcl	MGI:5617221

Allelic Composition	Ifih1^Rgsc422/Ifih1^Rgsc422
Genetic Background	D2JJcl.B6JJcl-Ifih1^Rgsc422

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ifih1^Rgsc422 mutation (0 available); any Ifih1 mutation (45 available)

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

mortality/aging

decreased survivor rate ( J:209917 )

• rarely survive to 4 weeks of age

postnatal lethality ( J:209917 )

• rarely survive to 4 weeks of age

growth/size/body

postnatal growth retardation ( J:209917 )

immune system

increased susceptibility to systemic lupus erythematosus ( J:209917 )

• develop severe multi-organ autoimmune disease

• inflammation is more severe than in heterozygous mice

glomerulonephritis ( J:209917 )

renal/urinary system

glomerulonephritis ( J:209917 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
systemic lupus erythematosus		DOID:9074	OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420	J:209917

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

mortality/aging

decreased survivor rate ( J:209917 )

• 60% of mice die within 24 weeks of birth

growth/size/body

postnatal growth retardation ( J:209917 )

immune system

abnormal leukocyte cell number ( J:209917 )

increased granulocyte number ( J:209917 )

increased dendritic cell number ( J:209917 )

• increase in the numbers of conventional DCs and plasmacytoid DCs in the spleen

increased plasma cell number ( J:209917 )

• slight increase

increased macrophage cell number ( J:209917 )

• in the spleen

increased immunoglobulin level ( J:209917 )

increased IgA level ( J:209917 )

increased IgG level ( J:209917 )

increased IgM level ( J:209917 )

abnormal T cell activation ( J:209917 )

• upregulation of an activation marker, CD69, in CD4+ and CD8+ T cells

abnormal macrophage activation involved in immune response ( J:209917 )

• upregulation of the cell surface marker CD86 on macrophages in the spleen suggesting that these cells are activated

abnormal cytokine level ( J:209917 )

• increased production of inflammatory cytokines in the kidney

abnormal chemokine level ( J:209917 )

• increased production of inflammatory chemokines in the kidney

abnormal dendritic cell antigen presentation ( J:209917 )

• upregulation of the cell surface marker CD86 on conventional DCs and plasmacytoid DCs in the spleen suggesting that these cells are activated

autoimmune response ( J:209917 )

increased susceptibility to systemic lupus erythematosus ( J:209917 )

• develop severe multi-organ autoimmune disease

increased anti-nuclear antigen antibody level ( J:209917 )

increased anti-double stranded DNA antibody level ( J:209917 )

increased inflammatory response ( J:209917 )

chronic liver inflammation ( J:209917 )

• liver calcification is seen, indicative of chronic inflammation

glomerulonephritis ( J:209917 )

• lupus-like nephritis develops 6-8 weeks after birth

• transfer of bone marrow cells to irradiated wild-type mice induces a milder nephritis

skin inflammation ( J:209917 )

• mild infiltration of polymorphonuclear leukocytes in the haired skin of the forehead

liver/biliary system

chronic liver inflammation ( J:209917 )

• liver calcification is seen, indicative of chronic inflammation

integument

skin inflammation ( J:209917 )

• mild infiltration of polymorphonuclear leukocytes in the haired skin of the forehead

mixed cellular infiltration to dermis ( J:209917 )

renal/urinary system

glomerulonephritis ( J:209917 )

• lupus-like nephritis develops 6-8 weeks after birth

• transfer of bone marrow cells to irradiated wild-type mice induces a milder nephritis

hematopoietic system

abnormal leukocyte cell number ( J:209917 )

increased granulocyte number ( J:209917 )

increased dendritic cell number ( J:209917 )

• increase in the numbers of conventional DCs and plasmacytoid DCs in the spleen

increased plasma cell number ( J:209917 )

• slight increase

increased macrophage cell number ( J:209917 )

• in the spleen

increased immunoglobulin level ( J:209917 )

increased IgA level ( J:209917 )

increased IgG level ( J:209917 )

increased IgM level ( J:209917 )

abnormal T cell activation ( J:209917 )

• upregulation of an activation marker, CD69, in CD4+ and CD8+ T cells

abnormal macrophage activation involved in immune response ( J:209917 )

• upregulation of the cell surface marker CD86 on macrophages in the spleen suggesting that these cells are activated

homeostasis/metabolism

abnormal cytokine level ( J:209917 )

• increased production of inflammatory cytokines in the kidney

abnormal chemokine level ( J:209917 )

• increased production of inflammatory chemokines in the kidney

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
systemic lupus erythematosus		DOID:9074	OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420	J:209917

Allelic Composition	Ifih1^Rgsc422/Ifih1⁺ Ifnar1^tm1Agt/Ifnar1⁺
Genetic Background	involves: 129S2/SvPas * C57BL/6JJcl * DBA/2JJcl

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ifih1^Rgsc422 mutation (0 available); any Ifih1 mutation (45 available)
Ifnar1^tm1Agt mutation (11 available); any Ifnar1 mutation (60 available)

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

immune system

glomerulonephritis ( J:209917 )

• less severe than in mice wild-type for Ifnar1

renal/urinary system

glomerulonephritis ( J:209917 )

• less severe than in mice wild-type for Ifnar1

Allelic Composition	Ifih1^Rgsc422/Ifih1⁺ Mavs^tm1Aki/Mavs^tm1Aki
Genetic Background	involves: C57BL/6JJcl * DBA/2JJcl

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ifih1^Rgsc422 mutation (0 available); any Ifih1 mutation (45 available)
Mavs^tm1Aki mutation (0 available); any Mavs mutation (36 available)

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

immune system

immune system phenotype ( J:209917 )

N	• mice do not develop glomerulonephritis, enhanced expression of cytokines and chemokines or increased numbers of immune cells in the spleen, unlike mice wild-type for Mavs

Allelic Composition	Ifih1^Rgsc422/Ifih1⁺ Mavs^tm1Aki/Mavs⁺
Genetic Background	involves: C57BL/6JJcl * DBA/2JJcl

Find Mice

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

immune system

glomerulonephritis ( J:209917 )

• less severe than in mice wild-type for Mavs

renal/urinary system

glomerulonephritis ( J:209917 )

• less severe than in mice wild-type for Mavs

Contributing Projects: 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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