All Phenotypes Rc3h1<san> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rc3h1^san/Rc3h1^san	either: C57BL/6JSfdAnu-Rc3h1^san/Anu or (involves: C57BL/6JSfdAnu * CBA/Ca)	MGI:3582186
hm2	Rc3h1^san/Rc3h1^san	involves: C57BL/6JSfdAnu	MGI:5503304
ht3	Rc3h1^san/Rc3h1⁺	involves: C57BL/6JSfdAnu	MGI:5445374
ht4	Rc3h1^tm1.2Cgv/Rc3h1^san	involves: C57BL/6 * C57BL/6JSfdAnu	MGI:5509046
cx5	Icos^tm1Flv/Icos^tm1Flv Rc3h1^san/Rc3h1⁺	involves: 129S1/Sv * C57BL/6 * C57BL/6JSfdAnu	MGI:5445418
cx6	Cd28^tm1Mak/Cd28^tm1Mak Rc3h1^san/Rc3h1⁺	involves: 129S2/SvPas * C57BL/6 * C57BL/6JSfdAnu	MGI:5445417
cx7	Rc3h1^san/Rc3h1^san Rc3h2^tm1.2Cgv/Rc3h2^tm1.2Cgv	involves: C57BL/6 * C57BL/6JSfdAnu	MGI:5509049

Allelic Composition	Rc3h1^san/Rc3h1^san
Genetic Background	either: C57BL/6JSfdAnu-Rc3h1^san/Anu or (involves: C57BL/6JSfdAnu * CBA/Ca)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rc3h1^san mutation (7 available); any Rc3h1 mutation (42 available)

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

immune system

abnormal T cell differentiation ( J:98938 )

• acting within mature T cells to cause formation of excessive numbers of follicular helper T cells and germinal centers

enlarged lymph nodes ( J:98938 )

• develop an enlarged spleen and lymph nodes by 7 weeks

increased anti-nuclear antigen antibody level ( J:98938 )

• females develop antinuclear autoantibodies by 6-7 weeks of age and males by 8-16 weeks

increased anti-double stranded DNA antibody level ( J:98938 )

• high-affinity antibodies against double stranded DNA

liver inflammation ( J:98938 )

• necrotizing hepatitis

glomerulonephritis ( J:98938 )

• focal proliferative glomerulonephritis with deposition of IgG-containing immune complexes

renal/urinary system

glomerulonephritis ( J:98938 )

• focal proliferative glomerulonephritis with deposition of IgG-containing immune complexes

hematopoietic system

abnormal T cell differentiation ( J:98938 )

• acting within mature T cells to cause formation of excessive numbers of follicular helper T cells and germinal centers

anemia ( J:98938 )

thrombocytopenia ( J:98938 )

• autoimmune thrombocytopenia

liver/biliary system

liver inflammation ( J:98938 )

• necrotizing hepatitis

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:98938

Allelic Composition	Rc3h1^san/Rc3h1^san
Genetic Background	involves: C57BL/6JSfdAnu

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rc3h1^san mutation (7 available); any Rc3h1 mutation (42 available)

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

Inflammation and mucosal injury in the ileum of Rc3h1^san/Rc3h1^san mice

immune system

increased T cell proliferation ( J:199407 )

cecum inflammation ( J:199407 )

colitis ( J:199407 )

• rare

small intestinal inflammation ( J:199407 )

ileum inflammation ( J:199407 )

• in 21 of 23 mice

enlarged spleen ( J:199407 )

• with florid follicular lymphoid hyperplasia

abnormal intraepithelial T cell number ( J:199407 )

• increased in the small intestine

increased activated T cell number ( J:199407 )

abnormal effector T cell morphology ( J:199407 )

• increase in short lived effector cells

increased CD4-positive, alpha-beta T cell number ( J:199407 )

• in the spleen

increased circulating tumor necrosis factor level ( J:196137 )

• elevated TNF levels relative to controls

lymphoid hyperplasia ( J:199407 )

• florid follicular lymphoid hyperplasia in the spleen

chronic liver inflammation ( J:199407 )

• moderate to severe in 26 mice with varying degrees of mononuclear cell infiltration around central vein and periportal areas and occasionally chronic granulomatous inflammation consisting of lymphocytes, histiocytes and multinucleated giant cells

granulomatous inflammation ( J:199407 )

• in the liver

cellular

hepatic necrosis ( J:199407 )

• lobular hepatocyte necrosis

increased T cell proliferation ( J:199407 )

digestive/alimentary system

abnormal small intestine crypts of Lieberkuhn morphology ( J:199407 )

• elongated

crypts of Lieberkuhn abscesses ( J:199407 )

intestinal ulcer ( J:199407 )

• in the small intestine villi

abnormal small intestinal villus morphology ( J:199407 )

• flattened

cecum inflammation ( J:199407 )

colitis ( J:199407 )

• rare

small intestinal inflammation ( J:199407 )

ileum inflammation ( J:199407 )

• in 21 of 23 mice

growth/size/body

decreased body weight ( J:199407 )

• from 14 to 55 weeks

• however, older mice exhibit normal body weight

enlarged spleen ( J:199407 )

• with florid follicular lymphoid hyperplasia

liver/biliary system

hepatic necrosis ( J:199407 )

• lobular hepatocyte necrosis

chronic liver inflammation ( J:199407 )

endocrine/exocrine glands

abnormal small intestine crypts of Lieberkuhn morphology ( J:199407 )

• elongated

crypts of Lieberkuhn abscesses ( J:199407 )

hematopoietic system

increased T cell proliferation ( J:199407 )

enlarged spleen ( J:199407 )

• with florid follicular lymphoid hyperplasia

abnormal intraepithelial T cell number ( J:199407 )

• increased in the small intestine

increased activated T cell number ( J:199407 )

abnormal effector T cell morphology ( J:199407 )

• increase in short lived effector cells

increased CD4-positive, alpha-beta T cell number ( J:199407 )

• in the spleen

homeostasis/metabolism

increased circulating tumor necrosis factor level ( J:196137 )

• elevated TNF levels relative to controls

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

neoplasm

increased T cell derived lymphoma incidence ( J:189087 )

• 36% of heterozygotes show tumors at 4-5 months of age and by 8-15 months of age about 50% of heterozygotes develop T-cell lymphoma

• prevalence of tumors is 1.6 times higher in females (65%) than in males (41%), regardless of age

• affected lymph nodes exhibit effacement of the nodal architecture, prominent vasularization, atypical T cells, and large B cells, features of angioimmunoblastic T-cell lymphoma, however they do not show expanded FDC networks

• clonal rearrangements in the TCR-beta genes are present in tumors

hematopoietic system

increased spleen weight ( J:189087 )

• slight but significant increase in spleen weight; no difference in spleen size is seen between heterozygotes with or without tumors, indicating that splenomegaly does not correlate with lymphadenopathy

increased T follicular helper cell number ( J:189087 )

• non-tumor lymph nodes exhibit an increased frequency of follicular helper T cells compared to wild-type mice

increased IgG level ( J:189087 )

• heterozygotes, both with and without tumors, develop hypergammaglobulinemia, showing a 2- to 3-fold increase in serum IgG levels

• heterozygotes with tumors have a 1.5-fold increase in total serum IgG levels compared to heterozygotes without tumors

abnormal T follicular helper cell physiology ( J:189087 )

• follicular T cells exhibit increased clonality compared with non-follicular T cells from the same lymph node, even in nontumor lymph nodes

immune system

increased spleen weight ( J:189087 )

increased T follicular helper cell number ( J:189087 )

• non-tumor lymph nodes exhibit an increased frequency of follicular helper T cells compared to wild-type mice

increased IgG level ( J:189087 )

• heterozygotes, both with and without tumors, develop hypergammaglobulinemia, showing a 2- to 3-fold increase in serum IgG levels

• heterozygotes with tumors have a 1.5-fold increase in total serum IgG levels compared to heterozygotes without tumors

abnormal T follicular helper cell physiology ( J:189087 )

• follicular T cells exhibit increased clonality compared with non-follicular T cells from the same lymph node, even in nontumor lymph nodes

abnormal lymph node morphology ( J:189087 )

• tumor lymph nodes exhibit an increase in the number of macrophages within the paracortex with occasional foci of myeloid metaplasia, dense aggregates of small PAX5+ lymphocytes all over the parenchyma forming follicles without germinal centers, reactive B-blasts and small clusters of mature plasma cells in the interfollicular areas, polymorphic infiltrate composed of small- to medium-sized proliferating CD3+ lymphocytes in the interfollicular compartment, T cells that occasionally form rosettes around large blasts, sinusoidal dilatation, vessels filled with T cells, an increase in the proportion of B cells, an increase in the frequency of myeloid and dendritic cells with monocyte-derived dendritic cells showing a 2- to 3-fold expansion, a decrease in CD8+ dendritic cells, and an increase in proliferation of follicular helper T cells

• nonenlarged lymph nodes from tumor-bearing heterozygotes exhibit preserved nodal architecture, having both primary and secondary follicles with reactive germinal centers as well as an increase of mature plasma cells in the interfollicular area

abnormal lymph node germinal center morphology ( J:189087 )

• germinal centers are hyperplastic in nontumor lymph nodes of heterozygotes with tumors

enlarged lymph nodes ( J:189087 )

• 53% of heterozygotes develop 1 to 4 enlarged lymph nodes, whereas other lymph nodes remain normal

• while some lymph nodes are larger due to tumor development, nontumor lymph nodes in heterozygotes are also often larger than control lymph nodes

growth/size/body

increased spleen weight ( J:189087 )

endocrine/exocrine glands

increased T cell derived lymphoma incidence ( J:189087 )

• 36% of heterozygotes show tumors at 4-5 months of age and by 8-15 months of age about 50% of heterozygotes develop T-cell lymphoma

• prevalence of tumors is 1.6 times higher in females (65%) than in males (41%), regardless of age

• clonal rearrangements in the TCR-beta genes are present in tumors

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
peripheral T-cell lymphoma		DOID:0050749		J:189087

Allelic Composition	Rc3h1^tm1.2Cgv/Rc3h1^san
Genetic Background	involves: C57BL/6 * C57BL/6JSfdAnu

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rc3h1^san mutation (7 available); any Rc3h1 mutation (42 available)
Rc3h1^tm1.2Cgv mutation (0 available); any Rc3h1 mutation (42 available)

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

hematopoietic system

increased CD4-positive, alpha-beta T cell number ( J:196137 )

increased T follicular helper cell number ( J:196137 )

immune system

increased CD4-positive, alpha-beta T cell number ( J:196137 )

increased T follicular helper cell number ( J:196137 )

Allelic Composition	Icos^tm1Flv/Icos^tm1Flv Rc3h1^san/Rc3h1⁺
Genetic Background	involves: 129S1/Sv * C57BL/6 * C57BL/6JSfdAnu

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Icos^tm1Flv mutation (3 available); any Icos mutation (35 available)
Rc3h1^san mutation (7 available); any Rc3h1 mutation (42 available)

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

neoplasm

increased T cell derived lymphoma incidence ( J:189087 )

• 5 of 25 double mutants develop T cell lymphoma

decreased lymphoma incidence ( J:189087 )

• tumor incidence (about 20%) is reduced compared to Rc3h1 heterozygotes (more than 50%)

endocrine/exocrine glands

increased T cell derived lymphoma incidence ( J:189087 )

• 5 of 25 double mutants develop T cell lymphoma

Allelic Composition	Cd28^tm1Mak/Cd28^tm1Mak Rc3h1^san/Rc3h1⁺
Genetic Background	involves: 129S2/SvPas * C57BL/6 * C57BL/6JSfdAnu

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cd28^tm1Mak mutation (12 available); any Cd28 mutation (53 available)
Rc3h1^san mutation (7 available); any Rc3h1 mutation (42 available)

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

neoplasm

increased T cell derived lymphoma incidence ( J:189087 )

• 2 of 22 double mutants develop T cell lymphoma

decreased lymphoma incidence ( J:189087 )

• tumor incidence (about 10%) is reduced compared to Rc3h1 heterozygotes (more than 50%)

endocrine/exocrine glands

increased T cell derived lymphoma incidence ( J:189087 )

• 2 of 22 double mutants develop T cell lymphoma

Allelic Composition	Rc3h1^san/Rc3h1^san Rc3h2^tm1.2Cgv/Rc3h2^tm1.2Cgv
Genetic Background	involves: C57BL/6 * C57BL/6JSfdAnu

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rc3h1^san mutation (7 available); any Rc3h1 mutation (42 available)
Rc3h2^tm1.2Cgv mutation (1 available); any Rc3h2 mutation (69 available)

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

mortality/aging

premature death ( J:196137 )

• premature and fully penetrant mortality before 22 weeks of age

immune system

increased T follicular helper cell number ( J:196137 )

• elevated percentage of Tfh cells

increased circulating tumor necrosis factor level ( J:196137 )

• 100 fold increase in TNF levels in mice surviving low doses of LPS

increased inflammatory response ( J:196137 )

• more sever inflammatory infiltrates of many organs

kidney inflammation ( J:196137 )

• more sever inflammatory infiltrates

increased susceptibility to bacterial infection ( J:196137 )

• increased susceptibility to low doses of lipopolysaccharide

• three of four died of low doses which are not lethal to mice homozygous for a single mutation

hematopoietic system

increased T follicular helper cell number ( J:196137 )

• elevated percentage of Tfh cells

renal/urinary system

kidney inflammation ( J:196137 )

• more sever inflammatory infiltrates

homeostasis/metabolism

increased circulating tumor necrosis factor level ( J:196137 )

• 100 fold increase in TNF levels in mice surviving low doses of LPS

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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