All Phenotypes Igh-J<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Igh-J⁺
wild type
MGI:2179192

Summary

24 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Igh-J^{tm2(3H9-VDJ*)Mwg}/Igh-J⁺	B6.129P2-Igh-J^{tm2(3H9-VDJ*)Mwg}	MGI:3836920
ht2	Igh-J^tm1Khyk/Igh-J⁺	CB17.129X1-Igh-J^tm1Khyk	MGI:3713663
ht3	Igh-J^{tm2(3H9-VDJ*)Mwg}/Igh-J⁺	involves: 129P2/OlaHsd * BALB/c	MGI:3809237
ht4	Igh-J^{tm2(3H9-VDJ*)Mwg}/Igh-J⁺	involves: 129P2/OlaHsd * BALB/c * C57BL/6	MGI:3809011
ht5	Igh-J^tm1Cgn/Igh-J⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:2179194
ht6	Igh-J^tm1Aigl/Igh-J⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3688084
ht7	Igh-J^tm1Aigl/Igh-J⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3688085
ht8	Igh-J^tm1Bds/Igh-J⁺	involves: 129S4/SvJae * C57BL/6	MGI:3582611
ht9	Igh-J^tm1(CB20)Rhd/Igh-J⁺	involves: C57BL/10 * DBA/1	MGI:5304727
ht10	Igh-J^{tm1(VDJ-VI10)Zbz}/Igh-J⁺	involves: C57BL/6 * C57BL/6J * BALB/cJ	MGI:2681465
ht11	Igh-J^{tm1(VDJ-KL25)Zbz}/Igh-J⁺	involves: C57BL/6 * C57BL/6J * BALB/cJ	MGI:2681461
ht12	Igh-J^tm1.1Lave/Igh-J⁺	Not Specified	MGI:4421673
cx13	Tcrb^tm1Mom/Tcrb^tm1Mom Tcrd^tm1Mom/Tcrd^tm1Mom Igh-J^{tm2(3H9-VDJ*)Mwg}/Igh-J⁺	B6.129P2-Tcrb^tm1Mom Igh-J^{tm2(3H9-VDJ*)Mwg} Tcrd^tm1Mom	MGI:3836921
cx14	Cd4^tm1Mak/Cd4^tm1Mak Igh-J^{tm2(3H9-VDJ*)Mwg}/Igh-J⁺	B6.Cg-Cd4^tm1Mak Igh-J^{tm2(3H9-VDJ*)Mwg}	MGI:3836922
cx15	Igh-J^tm1Cgn/Igh^tm1Leck	involves: 129P2/OlaHsd * C57BL/6	MGI:3830847
cx16	Igh-J^tm1Aigl/Igh-J⁺ Mog^tm1Dpd/Mog^tm1Dpd Tg(Tcra2D2,Tcrb2D2)1Kuch/0	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6	MGI:4461060
cx17	Igh-J^tm1Aigl/Igh-J⁺ Tg(Tcra2D2,Tcrb2D2)1Kuch/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4461059
cx18	Igh-J^tm1Dim/Igh-J⁺ Igk-J^tm1Dim/Igk-J⁺	involves: 129S4/SvJae * C57BL/6	MGI:3640188
cx19	Igh-J^tm1Dhu/Igh-J⁺ Il2^tm1Hor/Il2^tm1Hor	involves: 129/Sv * C57BL/6	MGI:3759414
cx20	Igh-J^tm1Dhu/Igh^tm1Tim	involves: 129X1/SvJ * C57BL/6	MGI:3033131
cx21	Igh-J^tm1Dhu/Igh^tm2Tim	involves: 129X1/SvJ * C57BL/6	MGI:3033132
cx22	Blnk^tm1Dkit/Blnk^tm1Dkit Igh-J^{tm1(3H9-VDJ)Mwg}/Igh-J⁺ Igk-J^tm1Mwg/Igk-J⁺	involves: C57BL/6 * NZB	MGI:3513981
cx23	Blnk^tm1Dkit/Blnk^tm1Dkit Igh-J^{tm1(3H9-VDJ)Mwg}/Igh-J⁺	involves: C57BL/6 * NZB	MGI:3513975
cx24	Fas^lpr/Fas^lpr Igh-J^{tm2(3H9-VDJ*)Mwg}/Igh-J⁺	MRL.Cg-Fas^lpr Igh-J^{tm2(3H9-VDJ*)Mwg}	MGI:3809239

Allelic Composition	Igh-J^{tm2(3H9-VDJ*)Mwg}/Igh-J⁺
Genetic Background	B6.129P2-Igh-J^{tm2(3H9-VDJ*)Mwg}

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^{tm2(3H9-VDJ*)Mwg} mutation (3 available); any Igh-J mutation (13 available)

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

immune system

increased marginal zone B cell number ( J:142389 )

• relative numbers of marginal B cells is increased more than 3-fold compared to wild-type controls

decreased B cell number ( J:142389 )

• mice have 2.4-fold fewer B cells than controls

spleen hypoplasia ( J:142389 )

• spleen has 1.6-fold fewer B cells than controls

increased anti-double stranded DNA antibody level ( J:142389 )

• anti-dsDNA antibodies of the IgG2a isotype are detected in the sera of mice with levels dropping between 6 and 12 months of age

• anti-dsDNA antibodies with IgM, IgG2b, IgG3 isotypes are also present in mice at 6 months of age

hematopoietic system

increased marginal zone B cell number ( J:142389 )

• relative numbers of marginal B cells is increased more than 3-fold compared to wild-type controls

decreased B cell number ( J:142389 )

• mice have 2.4-fold fewer B cells than controls

spleen hypoplasia ( J:142389 )

• spleen has 1.6-fold fewer B cells than controls

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:142389

Allelic Composition	Igh-J^tm1Khyk/Igh-J⁺
Genetic Background	CB17.129X1-Igh-J^tm1Khyk

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^tm1Khyk mutation (0 available); any Igh-J mutation (13 available)

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

hematopoietic system

hematopoietic system phenotype ( J:109979 )

N	• B-1 B cells appear first in the white pulp of the spleen and expand in association with follicular dendritic cells in neonatal mice in both control and mutant animals

increased B-1 B cell number ( J:109979 )

• a dramatic increase in anti-phosphatidylcholine expressing the V_H11mu heavy chain is seen in the white pulp of the spleen

• elevated numbers of CD5+ V_H11/V_H9 B cells with anti-phospatidylcholine specificity develop in mutant mice

immune system

increased B-1 B cell number ( J:109979 )

• a dramatic increase in anti-phosphatidylcholine expressing the V_H11mu heavy chain is seen in the white pulp of the spleen

• elevated numbers of CD5+ V_H11/V_H9 B cells with anti-phospatidylcholine specificity develop in mutant mice

Allelic Composition	Igh-J^{tm2(3H9-VDJ*)Mwg}/Igh-J⁺
Genetic Background	involves: 129P2/OlaHsd * BALB/c

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^{tm2(3H9-VDJ*)Mwg} mutation (3 available); any Igh-J mutation (13 available)

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

immune system

abnormal B cell receptor editing ( J:131138 )

• despite the presence of a transgene that predisposes formation of DNA-binding antibodies, 70% of B cells do not produce anti-DNA antibodies because the transgene is edited or associates with a light chain that prevents DNA binding

• some B cells pair the transgenic heavy chain with an "editor" kappa light chain that prevents binding to DNA

• other B cells have recombination events of the transgenic heavy chain

• finally, there are non-responsive B cells that have dual expression of kappa and lambda light chains that make up to 30% of splenic B cells in older mice

abnormal marginal zone B cell morphology ( J:131138 )

• B cells that have dual expression of kappa and lambda light chains are sequestered in the marginal zone of the spleen that make up to 30% of splenic B cells in older mice

• these B cells have receptors that bind DNA but are unresponsive and do not secrete auto-antibodies

increased anti-double stranded DNA antibody level ( J:131138 )

• significant levels of anti-dsDNA IgM antibodies are seen in mice 6-8 weeks of age

• levels of these auto antibodies fall with age but are still detectable in some mice at 12 weeks of age

• no IgG anti-dsDNA antibodies are observed

hematopoietic system

abnormal B cell receptor editing ( J:131138 )

• some B cells pair the transgenic heavy chain with an "editor" kappa light chain that prevents binding to DNA

• other B cells have recombination events of the transgenic heavy chain

• finally, there are non-responsive B cells that have dual expression of kappa and lambda light chains that make up to 30% of splenic B cells in older mice

abnormal marginal zone B cell morphology ( J:131138 )

• B cells that have dual expression of kappa and lambda light chains are sequestered in the marginal zone of the spleen that make up to 30% of splenic B cells in older mice

• these B cells have receptors that bind DNA but are unresponsive and do not secrete auto-antibodies

Allelic Composition	Igh-J^{tm2(3H9-VDJ*)Mwg}/Igh-J⁺
Genetic Background	involves: 129P2/OlaHsd * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^{tm2(3H9-VDJ*)Mwg} mutation (3 available); any Igh-J mutation (13 available)

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

immune system

abnormal B cell receptor editing ( J:126940 )

• the heavy chain encoded by the knocked-in allele is paired with a very limited repertoire of kappa light chains with the majority of these being from the Vkappa21D family

• many of these kappa light chains disrupt the intrinsic DNA-binding ability of the heavy chain so that few B cells outside the bone marrow produce antibodies that bind double-stranded DNA

• sequence analysis reveals most B cells have undergone receptor rearrangement multiple times with a bias towards Jkappa5 occurring, deletion of Ckappa often observed, and a high frequency of deletional and inverted rearrangements

increased anti-double stranded DNA antibody level ( J:126940 )

• B cell hybridomas developed from these mice produce antibodies that bind dsDNA

hematopoietic system

abnormal B cell receptor editing ( J:126940 )

• the heavy chain encoded by the knocked-in allele is paired with a very limited repertoire of kappa light chains with the majority of these being from the Vkappa21D family

• many of these kappa light chains disrupt the intrinsic DNA-binding ability of the heavy chain so that few B cells outside the bone marrow produce antibodies that bind double-stranded DNA

Allelic Composition	Igh-J^tm1Cgn/Igh-J⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^tm1Cgn mutation (3 available); any Igh-J mutation (13 available)

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

immune system

abnormal B cell differentiation ( J:64285 )

• all B cells in the peripheral blood express only surface IgM^b while wild-type show equivalent numbers of IgM^a and IgM^b-bearing cells

• cultured splenic B cells stimulated with LPS and Il-4 show defective switch recombination at S_mu in cis (on mutant chromosome) compared to wild-type B cells

hematopoietic system

abnormal B cell differentiation ( J:64285 )

• all B cells in the peripheral blood express only surface IgM^b while wild-type show equivalent numbers of IgM^a and IgM^b-bearing cells

• cultured splenic B cells stimulated with LPS and Il-4 show defective switch recombination at S_mu in cis (on mutant chromosome) compared to wild-type B cells

Allelic Composition	Igh-J^tm1Aigl/Igh-J⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^tm1Aigl mutation (0 available); any Igh-J mutation (13 available)

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

immune system

abnormal B cell morphology ( J:111543 )

• only a few (1-4%) of B cells express endogenous the endogenous IgH; almost all cells express transgenic IgM^a

• prior to MOG-immunization, ratio of replacement to substitution mutations (R/S) in B cell V region is much lower than 14 days after immunization; R/S ratio (R/S: 3.4) is 3-fold higher than in preimmune sequences (R/S 1.4) and for the compelementarity-determining region 3, R/S ratio is 14.5 on day 14 vs 1.5 at day 0

decreased B cell number ( J:111543 )

decreased B-1 B cell number ( J:111543 )

increased susceptibility to experimental autoimmune encephalomyelitis ( J:111543 )

• EAE induced with rMOG protein occurs in 70% of animals vs 29% in wild-type littermates; wild-type C57BL/6 mice are only partially susceptible to MOG-induced EAE

hematopoietic system

abnormal B cell morphology ( J:111543 )

• only a few (1-4%) of B cells express endogenous the endogenous IgH; almost all cells express transgenic IgM^a

decreased B cell number ( J:111543 )

decreased B-1 B cell number ( J:111543 )

Allelic Composition	Igh-J^tm1Aigl/Igh-J⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^tm1Aigl mutation (0 available); any Igh-J mutation (13 available)

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

immune system

increased susceptibility to experimental autoimmune encephalomyelitis ( J:111543 )

• transgenic mice immunized with PLP peptide or rMOG protein show accelerated onset of experimental autoimmune encephalitis (EAE) and exacerbated the neurological deficit to a maximal disease score of 4.9 vs 2.1 in nontransgenic littermate controls

• with adoptive transfer of PLP peptide specific SJL T cell lines which induce severe, often lethal EAE, disease onset occurs 3-4 days earlier than in nontransgenic littermates

Allelic Composition	Igh-J^tm1Bds/Igh-J⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^tm1Bds mutation (0 available); any Igh-J mutation (13 available)

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

normal phenotype

no abnormal phenotype detected ( J:71617 )

• the transgene allotype was expressed on B cell surfaces and in serum Ig

• about one-third of B cells expressed the endogenous allele

• total serum Ig concentrations were normal

• transgene allotype expressing B cells served as precursors for cells producing IgM and IgG antibodies to diverse antigens

Allelic Composition	Igh-J^tm1(CB20)Rhd/Igh-J⁺
Genetic Background	involves: C57BL/10 * DBA/1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^tm1(CB20)Rhd mutation (0 available); any Igh-J mutation (13 available)

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

immune system

abnormal B cell differentiation ( J:179456 )

• proper-B cells are decreased in the bone marrow compared to in wild-type mice

increased immature B cell number ( J:179456 )

• in the bone marrow

increased mature B cell number ( J:179456 )

• in the bone marrow

increased marginal zone B cell number ( J:179456 )

decreased pre-B cell number ( J:179456 )

• in the bone marrow

increased susceptibility to induced arthritis ( J:179456 )

• following injection an antibody mixture containing CIIC2 (recognizing D3 epitope), M2139 (J1 epitope), and UL1 (U1 epitope), mice exhibit increased incidence and severity of arthritis compared with wild-type mice

skeleton

increased susceptibility to induced arthritis ( J:179456 )

hematopoietic system

abnormal B cell differentiation ( J:179456 )

• proper-B cells are decreased in the bone marrow compared to in wild-type mice

increased immature B cell number ( J:179456 )

• in the bone marrow

increased mature B cell number ( J:179456 )

• in the bone marrow

increased marginal zone B cell number ( J:179456 )

decreased pre-B cell number ( J:179456 )

• in the bone marrow

Allelic Composition	Igh-J^{tm1(VDJ-VI10)Zbz}/Igh-J⁺
Genetic Background	involves: C57BL/6 * C57BL/6J * BALB/cJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^{tm1(VDJ-VI10)Zbz} mutation (0 available); any Igh-J mutation (13 available)

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

immune system

abnormal immune serum protein physiology ( J:86411 )

• high levels of VSV neutralizing antibodies are found in preimmunized mice (containing equal amounts of IgM and IgG)

• mice mounted a significant and faster response to infection

• titers don't reach levels seen in wild-type mice

• augmentation of isotype switching does not occur before day 6

Allelic Composition	Igh-J^{tm1(VDJ-KL25)Zbz}/Igh-J⁺
Genetic Background	involves: C57BL/6 * C57BL/6J * BALB/cJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^{tm1(VDJ-KL25)Zbz} mutation (0 available); any Igh-J mutation (13 available)

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

immune system

increased IgG level ( J:86411 )

• isotype switching occured at day 4

• after day 12 almost all neutralizing activity was in IgG

increased IgM level ( J:86411 )

• a dramitic, short-lived neutralizing IgM response was induced by LCMV infection but not in wild-type mice

• IgM production is largely T-cell independent

hematopoietic system

increased IgG level ( J:86411 )

• isotype switching occured at day 4

• after day 12 almost all neutralizing activity was in IgG

increased IgM level ( J:86411 )

• a dramitic, short-lived neutralizing IgM response was induced by LCMV infection but not in wild-type mice

• IgM production is largely T-cell independent

Allelic Composition	Igh-J^tm1.1Lave/Igh-J⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^tm1.1Lave mutation (0 available); any Igh-J mutation (13 available)

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

immune system

abnormal B cell differentiation ( J:155798 )

• most 2F5-expressing B cells are deleted in the bone marrow at the pre-B to immature B cell stage

decreased immature B cell number ( J:155798 )

decreased transitional stage B cell number ( J:155798 )

• transitional B cell populations are decreased 7-fold compared to in wild-type mice

decreased transitional stage T1 B cell number ( J:155798 )

decreased transitional stage T2 B cell number ( J:155798 )

increased pro-B cell number ( J:155798 )

decreased B cell number ( J:155798 )

• B cell numbers in the bone marrow and spleen are decreased compared to in wild-type mice

decreased mature B cell number ( J:155798 )

• mice exhibit a decrease in mature splenic B cells with low surfgace Ig density compared to in wild-type mice

• however, the number of marginal zone and follicular mature B cells is normal

increased pre-B cell number ( J:155798 )

• the percentage of large pre-B cells in the bone marrow is increased compared to in wild-type mice

decreased T cell number ( J:155798 )

• in the spleen

decreased spleen weight ( J:155798 )

hematopoietic system

abnormal B cell differentiation ( J:155798 )

• most 2F5-expressing B cells are deleted in the bone marrow at the pre-B to immature B cell stage

decreased immature B cell number ( J:155798 )

decreased transitional stage B cell number ( J:155798 )

• transitional B cell populations are decreased 7-fold compared to in wild-type mice

decreased transitional stage T1 B cell number ( J:155798 )

decreased transitional stage T2 B cell number ( J:155798 )

increased pro-B cell number ( J:155798 )

decreased B cell number ( J:155798 )

• B cell numbers in the bone marrow and spleen are decreased compared to in wild-type mice

decreased mature B cell number ( J:155798 )

• mice exhibit a decrease in mature splenic B cells with low surfgace Ig density compared to in wild-type mice

• however, the number of marginal zone and follicular mature B cells is normal

increased pre-B cell number ( J:155798 )

• the percentage of large pre-B cells in the bone marrow is increased compared to in wild-type mice

decreased T cell number ( J:155798 )

• in the spleen

decreased spleen weight ( J:155798 )

Allelic Composition	Tcrb^tm1Mom/Tcrb^tm1Mom Tcrd^tm1Mom/Tcrd^tm1Mom Igh-J^{tm2(3H9-VDJ*)Mwg}/Igh-J⁺
Genetic Background	B6.129P2-Tcrb^tm1Mom Igh-J^{tm2(3H9-VDJ*)Mwg} Tcrd^tm1Mom

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^{tm2(3H9-VDJ*)Mwg} mutation (3 available); any Igh-J mutation (13 available)
Tcrb^tm1Mom mutation (12 available); any Tcrb mutation (98 available)
Tcrd^tm1Mom mutation (13 available); any Tcrd mutation (16 available)

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

immune system

increased marginal zone B cell number ( J:142389 )

• relative numbers of marginal B cells is increased more than 3-fold compared to wild-type controls

spleen hypoplasia ( J:142389 )

• spleen has 1.9- to 2.9- fold fewer spleen cells than controls

increased anti-double stranded DNA antibody level ( J:142389 )

• anti-dsDNA antibodies of the IgG2a isotype are detected in the sera of mice from 1 to 3 months of age

• anti-dsDNA antibodies with IgM, IgG2b, IgG3 isotypes are also present with levels of IgG3 extremly high compared to controls

• at 3 months of age, levels are higher than those found in 56R mice that have peripheral T cells

hematopoietic system

increased marginal zone B cell number ( J:142389 )

• relative numbers of marginal B cells is increased more than 3-fold compared to wild-type controls

spleen hypoplasia ( J:142389 )

• spleen has 1.9- to 2.9- fold fewer spleen cells than controls

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:142389

Allelic Composition	Cd4^tm1Mak/Cd4^tm1Mak Igh-J^{tm2(3H9-VDJ*)Mwg}/Igh-J⁺
Genetic Background	B6.Cg-Cd4^tm1Mak Igh-J^{tm2(3H9-VDJ*)Mwg}

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cd4^tm1Mak mutation (5 available); any Cd4 mutation (84 available)
Igh-J^{tm2(3H9-VDJ*)Mwg} mutation (3 available); any Igh-J mutation (13 available)

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

immune system

increased anti-double stranded DNA antibody level ( J:142389 )

• anti-dsDNA antibodies of IgG2a isotype are detected in the sera of mice at levels slightly less than that of 56R mice that have CD4 T cells present

• anti-dsDNA antibodies with IgM, IgG2b, IgG3 are also present in mice at 6 months of age though at levels less than those found in 56R mice with CD4 T cells

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:142389

Allelic Composition	Igh-J^tm1Cgn/Igh^tm1Leck
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^tm1Cgn mutation (3 available); any Igh-J mutation (13 available)
Igh^tm1Leck mutation (0 available); any Igh mutation (41 available)

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

immune system

abnormal immunoglobulin light chain V-J recombination ( J:144033 )

• the percentage of B cells expressing lambda light chain is about 4 times higher than in wild-type mice

hematopoietic system

abnormal immunoglobulin light chain V-J recombination ( J:144033 )

• the percentage of B cells expressing lambda light chain is about 4 times higher than in wild-type mice

Allelic Composition	Igh-J^tm1Aigl/Igh-J⁺ Mog^tm1Dpd/Mog^tm1Dpd Tg(Tcra2D2,Tcrb2D2)1Kuch/0
Genetic Background	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^tm1Aigl mutation (0 available); any Igh-J mutation (13 available)
Mog^tm1Dpd mutation (0 available); any Mog mutation (56 available)
Tg(Tcra2D2,Tcrb2D2)1Kuch mutation (2 available)

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

behavior/neurological

paralysis ( J:151335 )

• disease started between 7 and 10 weeks of age, with classical paralytic EAE signs

muscle

muscle hypertonia ( J:151335 )

• in a minority of cases, with a spastic component

nervous system

CNS inflammation ( J:151335 )

• inflammatory infiltrates in the trigeminal ganglia, spinal ganglia, spinal roots despite the absence of MOG within these tissues

abnormal nervous system morphology ( J:151335 )

• inflammatory infiltrates in the peripheral nervous system despite the absence of MOG within these tissues

abnormal optic nerve morphology ( J:151335 )

• lesions consisting of lymphocytic infiltration, demyelation and axonal damage in optic nerve

abnormal spinal cord morphology ( J:151335 )

• lesions consisting of lymphocytic infiltration, demyelation and axonal damage in the spinal cord

demyelination ( J:151335 )

• within the spinal cord and optic nerve

vision/eye

abnormal optic nerve morphology ( J:151335 )

• lesions consisting of lymphocytic infiltration, demyelation and axonal damage in optic nerve

immune system

increased susceptibility to experimental autoimmune encephalomyelitis ( J:151335 )

• 15% of the mice develop spontaneous EAE

CNS inflammation ( J:151335 )

• inflammatory infiltrates in the trigeminal ganglia, spinal ganglia, spinal roots despite the absence of MOG within these tissues

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
multiple sclerosis		DOID:2377	OMIM:612594 OMIM:612595 OMIM:612596	J:151335

Allelic Composition	Igh-J^tm1Aigl/Igh-J⁺ Tg(Tcra2D2,Tcrb2D2)1Kuch/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^tm1Aigl mutation (0 available); any Igh-J mutation (13 available)
Tg(Tcra2D2,Tcrb2D2)1Kuch mutation (2 available)

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

behavior/neurological

paralysis ( J:151335 )

• disease started between 7 and 10 weeks of age, with classical paralytic EAE signs

immune system

increased susceptibility to experimental autoimmune encephalomyelitis ( J:151335 )

• fifty percent spontaneously develop opticospinal myelitis

CNS inflammation ( J:151335 )

• inflammatory infiltrates in the trigeminal ganglia, spinal ganglia, spinal roots despite the absence of MOG within these tissues

muscle

muscle hypertonia ( J:151335 )

• in a minority of cases, with a spastic component

nervous system

CNS inflammation ( J:151335 )

• inflammatory infiltrates in the trigeminal ganglia, spinal ganglia, spinal roots despite the absence of MOG within these tissues

abnormal nervous system morphology ( J:151335 )

• inflammatory infiltrates in the peripheral nervous system despite the absence of MOG within these tissues

abnormal optic nerve morphology ( J:151335 )

• lesions consisting of lymphocytic infiltration, demyelation and axonal damage in optic nerve

abnormal spinal cord morphology ( J:151335 )

• lesions consisting of lymphocytic infiltration, demyelation and axonal damage in the spinal cord

demyelination ( J:151335 )

• within the spinal cord and optic nerve

vision/eye

abnormal optic nerve morphology ( J:151335 )

• lesions consisting of lymphocytic infiltration, demyelation and axonal damage in optic nerve

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
multiple sclerosis		DOID:2377	OMIM:612594 OMIM:612595 OMIM:612596	J:151335

Allelic Composition	Igh-J^tm1Dim/Igh-J⁺ Igk-J^tm1Dim/Igk-J⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^tm1Dim mutation (1 available); any Igh-J mutation (13 available)
Igk-J^tm1Dim mutation (1 available); any Igk-J mutation (11 available)

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

immune system

abnormal B cell differentiation ( J:107241 )

• the bone marrow contains an increase in the proportion of immature B cells and decrease in the proportion of mature B cells probably as the result of removal of cells expressing high-affinity anti-glucose-6-phosphate specificities during maturation

increased IgG level ( J:107241 )

• detectable levels of anti-glucose-6-phosphate IgG unlike in wild-type mice

increased IgM level ( J:107241 )

• 3- to 10-fold increase in the anti-glucose-6-phosphate IgM titer

hematopoietic system

abnormal B cell differentiation ( J:107241 )

increased IgG level ( J:107241 )

• detectable levels of anti-glucose-6-phosphate IgG unlike in wild-type mice

increased IgM level ( J:107241 )

• 3- to 10-fold increase in the anti-glucose-6-phosphate IgM titer

Allelic Composition	Igh-J^tm1Dhu/Igh-J⁺ Il2^tm1Hor/Il2^tm1Hor
Genetic Background	involves: 129/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^tm1Dhu mutation (1 available); any Igh-J mutation (13 available)
Il2^tm1Hor mutation (5 available); any Il2 mutation (39 available)

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

immune system

colitis ( J:29999 )

• occurs in all mice that survive past 9 weeks of age, with thickening of large intestinal wall

enlarged mesenteric lymph nodes ( J:29999 )

• are increased 3-10 fold in size as compared to control littermates

digestive/alimentary system

rectal hemorrhage ( J:29999 )

• is rarely observed

abnormal intestinal goblet cell morphology ( J:29999 )

• loss of mucin is observed in goblet cells

diarrhea ( J:29999 )

• occurs in mice 24 weeks of age

abnormal intestinal epithelium morphology ( J:29999 )

• crypt hyperplasia and unusual branching is observed

rectal prolapse ( J:29999 )

• occasional occurrence among mice whom live past 9 weeks of age

colitis ( J:29999 )

• occurs in all mice that survive past 9 weeks of age, with thickening of large intestinal wall

cardiovascular system

rectal hemorrhage ( J:29999 )

• is rarely observed

growth/size/body

cachexia ( J:29999 )

• weight loss resulting from intestinal inflammation is observed by 24 weeks

hematopoietic system

anemia ( J:29999 )

• occurs in mice 24 weeks of age

behavior/neurological

hunched posture ( J:29999 )

• occurs in mice 24 weeks of age

cellular

abnormal intestinal goblet cell morphology ( J:29999 )

• loss of mucin is observed in goblet cells

Allelic Composition	Igh-J^tm1Dhu/Igh^tm1Tim
Genetic Background	involves: 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^tm1Dhu mutation (1 available); any Igh-J mutation (13 available)
Igh^tm1Tim mutation (0 available); any Igh mutation (41 available)

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

hematopoietic system

abnormal B cell morphology ( J:87624 )

• cell surface IgM levels are generally lower and particularly lower in E4+ cells

• cell surface IgD levels are normal except in E4+ cells where it is dramatically reduced

• lambda-L chain levels were elevated 3X generally but were undetectable in E4+ B cells

abnormal B cell differentiation ( J:88410 )

• B cell development was normal in bone marrow

• splenic B cells with a follicular phenotype and are E4+

• B cells do not express endogenous mu-chain

abnormal spleen morphology ( J:87624 )

abnormal spleen marginal zone morphology ( J:87624 )

• B cell area decreased in size

immune system

abnormal B cell morphology ( J:87624 )

• cell surface IgM levels are generally lower and particularly lower in E4+ cells

• cell surface IgD levels are normal except in E4+ cells where it is dramatically reduced

• lambda-L chain levels were elevated 3X generally but were undetectable in E4+ B cells

abnormal B cell differentiation ( J:88410 )

• B cell development was normal in bone marrow

• splenic B cells with a follicular phenotype and are E4+

• B cells do not express endogenous mu-chain

abnormal immune system organ morphology ( J:87624 )

abnormal spleen morphology ( J:87624 )

abnormal spleen marginal zone morphology ( J:87624 )

• B cell area decreased in size

Allelic Composition	Igh-J^tm1Dhu/Igh^tm2Tim
Genetic Background	involves: 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igh-J^tm1Dhu mutation (1 available); any Igh-J mutation (13 available)
Igh^tm2Tim mutation (0 available); any Igh mutation (41 available)

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

hematopoietic system

abnormal spleen morphology ( J:87624 )

• cell surface IgM levels are somewhat lower in B220+ and E4+ cells

• two cell populations, one in which surface IgD levels are normal, another in which they are substantially reduced

decreased marginal zone B cell number ( J:87624 )

• modestly reduced

immune system

abnormal spleen morphology ( J:87624 )

• cell surface IgM levels are somewhat lower in B220+ and E4+ cells

• two cell populations, one in which surface IgD levels are normal, another in which they are substantially reduced

decreased marginal zone B cell number ( J:87624 )

• modestly reduced

abnormal lymph node morphology ( J:87624 )

• cell surface IgD levels as in the spleen

Allelic Composition	Blnk^tm1Dkit/Blnk^tm1Dkit Igh-J^{tm1(3H9-VDJ)Mwg}/Igh-J⁺ Igk-J^tm1Mwg/Igk-J⁺
Genetic Background	involves: C57BL/6 * NZB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Blnk^tm1Dkit mutation (1 available); any Blnk mutation (76 available)
Igh-J^{tm1(3H9-VDJ)Mwg} mutation (4 available); any Igh-J mutation (13 available)
Igk-J^tm1Mwg mutation (1 available); any Igk-J mutation (11 available)

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

hematopoietic system

abnormal immature B cell morphology ( J:94297 )

• decreased number of B cells in bone marrow and spleen

• receptor editing of dsDNA binding BCR replacing kappa chain with lamda was hampered resulting in suppression of lambda + B cells to 5% (compared to 22% in cells with wild-type Blnk)

immune system

abnormal immature B cell morphology ( J:94297 )

• decreased number of B cells in bone marrow and spleen

• receptor editing of dsDNA binding BCR replacing kappa chain with lamda was hampered resulting in suppression of lambda + B cells to 5% (compared to 22% in cells with wild-type Blnk)

Allelic Composition	Blnk^tm1Dkit/Blnk^tm1Dkit Igh-J^{tm1(3H9-VDJ)Mwg}/Igh-J⁺
Genetic Background	involves: C57BL/6 * NZB

Find Mice

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

hematopoietic system

abnormal immature B cell morphology ( J:94297 )

• impaired editing of anti-DNA Ag receptors in splenic immature B cells

immune system

abnormal immature B cell morphology ( J:94297 )

• impaired editing of anti-DNA Ag receptors in splenic immature B cells

Allelic Composition	Fas^lpr/Fas^lpr Igh-J^{tm2(3H9-VDJ*)Mwg}/Igh-J⁺
Genetic Background	MRL.Cg-Fas^lpr Igh-J^{tm2(3H9-VDJ*)Mwg}

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fas^lpr mutation (39 available); any Fas mutation (82 available)
Igh-J^{tm2(3H9-VDJ*)Mwg} mutation (3 available); any Igh-J mutation (13 available)

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

immune system

abnormal B cell receptor editing ( J:131138 )

• Anti-dsDNA B cells have their transgenic heavy chains paired with kappa light chains that do not prevent DNA binding

• most anti-dsDNA B cells have also edited the heavy chain transgene suggesting de novo development of anti-DNA binding activity

• there is a decrease in the number of unresponsive B cells that express both lamda and kappa chains compared to transgenic mice on a BALB/c background (7.6% of splenic B cells versus to 19.4% )

abnormal marginal zone B cell morphology ( J:131138 )

• mice have a smaller marginal zone B cell population (3.4% of splenic lymphocytes) compared to MRL/lpr mice without the transgene (10.8%)

increased anti-double stranded DNA antibody level ( J:131138 )

• significant levels of IgM and IgG antibodies that bind dsDNA antibodies are detected in mice 6-8 weeks of age

• levels of these auto antibodies rise with age

• the levels of IgG are higher than in age-matched MRL/lpr mice that do not carry the transgene

hematopoietic system

abnormal B cell receptor editing ( J:131138 )

• Anti-dsDNA B cells have their transgenic heavy chains paired with kappa light chains that do not prevent DNA binding

• most anti-dsDNA B cells have also edited the heavy chain transgene suggesting de novo development of anti-DNA binding activity

• there is a decrease in the number of unresponsive B cells that express both lamda and kappa chains compared to transgenic mice on a BALB/c background (7.6% of splenic B cells versus to 19.4% )

abnormal marginal zone B cell morphology ( J:131138 )

• mice have a smaller marginal zone B cell population (3.4% of splenic lymphocytes) compared to MRL/lpr mice without the transgene (10.8%)

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:131138

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