All Phenotypes B2m<tm1Jae> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

B2m^tm1Jae
targeted mutation 1, Rudolf Jaenisch
MGI:1927183

Summary

15 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	B2m^tm1Jae/B2m^tm1Jae	B6.129S2-B2m^tm1Jae	MGI:3617412
hm2	B2m^tm1Jae/B2m^tm1Jae	involves: 129S2/SvPas	MGI:3576233
hm3	B2m^tm1Jae/B2m^tm1Jae	involves: 129S2/SvPas * C57BL/6J	MGI:2175714
cn4	B2m^tm1Jae/B2m^tm1Jae Tg(B2m)1Rms/0 Tg(INS-cre)2Rms/0	involves: 129S2/SvPas * NOD	MGI:2663960
cx5	B2m^tm1Jae/B2m^tm1Jae Tap1^tm1Hpl/Tap1^tm1Hpl	B6.129-B2m^tm1Jae Tap1^tm1Hpl	MGI:5009810
cx6	B2m^tm1Jae/B2m^tm1Jae Themis^tm1Lov/Themis^tm1Lov	involves: 129	MGI:4353391
cx7	B2m^tm1Jae/B2m^tm1Jae Rr96^tm1.1Yzo/Rr96^tm1.1Yzo	involves: 129P2/OlaHsd * 129S2/SvPas	MGI:3808859
cx8	B2m^tm1Jae/B2m^tm1Jae Rr94^tm3.2Litt/Rr94^tm3.2Litt	involves: 129P2/OlaHsd * 129S2/SvPas * FVB/N	MGI:4452093
cx9	B2m^tm1Jae/B2m^tm1Jae Foxp3^sf Otc^spf/Y	involves: 129/Rl * 129S2/SvPas	MGI:3590073
cx10	B2m^tm1Jae/B2m^tm1Jae Zbtb7b^tm1Litt/Zbtb7b^tm1.2Litt	involves: 129S2/SvPas * C57BL/6	MGI:3821710
cx11	B2m^tm1Jae/B2m^tm1Jae Cd4^tm1Jrp/Cd4^tm1Jrp	involves: 129S2/SvPas * C57BL/6	MGI:3652734
cx12	B2m^tm1Jae/B2m^tm1Jae Tg(LckNotch1)9Erob/?	involves: 129S2/SvPas * C57BL/6 * CBA	MGI:3834935
cx13	B2m^tm1Jae/B2m^tm1Jae Tg(H2-K-Cd86)27All/0	involves: 129S2/SvPas * C57BL/6 * CBA	MGI:3662644
cx14	B2m^tm1Jae/B2m^tm1Jae Tox^tm1.1Kay/Tox^tm1.1Kay	involves: 129S6/SvEvTac * 129S2/SvPas	MGI:3807779
cx15	B2m^tm1Jae/B2m^tm1Jae Tnf^tm2Gkl/Tnf⁺	involves: 129S/SvEv * 129S2/SvPas * C57BL/6J	MGI:3629515

Allelic Composition	B2m^tm1Jae/B2m^tm1Jae
Genetic Background	B6.129S2-B2m^tm1Jae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Jae mutation (8 available); any B2m mutation (122 available)

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

immune system

increased interleukin-3 secretion ( J:64283 )

• spleen and lymph node cells produce an average of 5-fold higher levels of IL-3

decreased interleukin-4 secretion ( J:64283 )

• spleen and lymph node cells produce IFN gamma at comparable levels to wild-type at 8 weeks after parasite infection

• no IL-4 was detected at any time

increased tumor necrosis factor secretion ( J:64283 )

• spleen and lymph node cells produce an average of 3.7-fold higher levels of LT-TNF

decreased susceptibility to parasitic infection ( J:64283 )

• lesions after infection progress similarly to those in wild-type up to 7 weeks post-infection, then decrease slightly in size and remain a constant size over a 23-week period

nervous system

abnormal lateral geniculate nucleus morphology ( J:66246 )

• area of the ipsilateral projection is increased compared to controls

Allelic Composition	B2m^tm1Jae/B2m^tm1Jae
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Jae mutation (8 available); any B2m mutation (122 available)

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

homeostasis/metabolism

hemochromatosis ( J:17527 )

• abnormal deposits of ferric iron in liver and increased total hepatic iron levels (1583 ug/g dry tissue vs. 468 ug/g in wildtype)

• occasionally saw deposits of ferric iron in myocytes, in the branchial wall and lumen of the lung, in the pancreas, and in 5 week old marginal zone of the spleen

hematopoietic system

decreased CD8-positive, alpha-beta T cell number ( J:166104 )

• in the spleen and thymus

immune system

decreased CD8-positive, alpha-beta T cell number ( J:166104 )

• in the spleen and thymus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hemochromatosis		DOID:2352	OMIM:231100 OMIM:PS235200	J:17527

Allelic Composition	B2m^tm1Jae/B2m^tm1Jae
Genetic Background	involves: 129S2/SvPas * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Jae mutation (8 available); any B2m mutation (122 available)

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

hematopoietic system

decreased CD8-positive, alpha-beta T cell number ( J:744 , J:80910 )

• decreased proportion of CD8⁺ alpha-beta⁺ T cells (J:744)

• 100-150-fold reduction in T-cell antigen receptor alpha-beta⁺ CD4^-CD8⁺ T cells in adult thymus and spleen, however levels of gamma-delta T cells is normal (J:80910)

increased gamma-delta T cell number ( J:744 )

• frequency of gamma-delta⁺ T cells was considerably higher in the thymus (11% vs. 6.5% of CD4^-CD8^- thymocytes), however development and functional competence of gamma-delta⁺ T cells was normal

increased gamma-delta intraepithelial T cell number ( J:744 )

• increased frequency of gamma-delta⁺ T cells in the intestinal epithelium

abnormal CD8-positive, alpha-beta cytotoxic T cell morphology ( J:80910 )

• spleen cells did not contain cytotoxic T lymphocyte precursors

abnormal cytotoxic T cell physiology ( J:80910 )

• spleen cells fail to generate allo-specific cytotoxic T lympocyte response when stimulated with BALB/c (H-2^d) spleen cells

immune system

decreased CD8-positive, alpha-beta T cell number ( J:744 , J:80910 )

• decreased proportion of CD8⁺ alpha-beta⁺ T cells (J:744)

• 100-150-fold reduction in T-cell antigen receptor alpha-beta⁺ CD4^-CD8⁺ T cells in adult thymus and spleen, however levels of gamma-delta T cells is normal (J:80910)

increased gamma-delta T cell number ( J:744 )

increased gamma-delta intraepithelial T cell number ( J:744 )

• increased frequency of gamma-delta⁺ T cells in the intestinal epithelium

abnormal CD8-positive, alpha-beta cytotoxic T cell morphology ( J:80910 )

• spleen cells did not contain cytotoxic T lymphocyte precursors

abnormal cytotoxic T cell physiology ( J:80910 )

• spleen cells fail to generate allo-specific cytotoxic T lympocyte response when stimulated with BALB/c (H-2^d) spleen cells

Allelic Composition	B2m^tm1Jae/B2m^tm1Jae Tg(B2m)1Rms/0 Tg(INS-cre)2Rms/0
Genetic Background	involves: 129S2/SvPas * NOD

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Jae mutation (8 available); any B2m mutation (122 available)
Tg(B2m)1Rms mutation (0 available)
Tg(INS-cre)2Rms mutation (1 available)

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

homeostasis/metabolism

abnormal glucose homeostasis ( J:83635 )

• resistance to development of diabetes and hyperglycemia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	type 1 diabetes mellitus	DOID:9744	OMIM:222100	J:83635

Allelic Composition	B2m^tm1Jae/B2m^tm1Jae Tap1^tm1Hpl/Tap1^tm1Hpl
Genetic Background	B6.129-B2m^tm1Jae Tap1^tm1Hpl

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Jae mutation (8 available); any B2m mutation (122 available)
Tap1^tm1Hpl mutation (1 available); any Tap1 mutation (51 available)

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

nervous system

enlarged lateral ventricles ( J:66246 )

• 52% of P13 mice and 57% of adult mice have enlarged lateral ventricles

abnormal lateral geniculate nucleus morphology ( J:66246 )

• area of the ipsilateral projection is increased compared to controls

• in some cases, multiple ectopic clusters of inputs are present in the medial areas of the LGN

• retinogeniculate axons, glomeruli and bouton appear normal

abnormal synaptic bouton morphology ( J:120941 )

• increase in size of excitatory presynaptic boutons

abnormal synapse morphology ( J:120941 )

• mice exhibit significantly fewer perforations at hippocampal synapses that wild-type

abnormal synaptic vesicle number ( J:120941 )

• presynaptic nerve terminals contain 10% more synaptic vesicles than wild-type

enhanced long-term potentiation ( J:66246 )

• LTP in response to tetanus is enhanced by approximately 227% as compared to wild type

abnormal miniature excitatory postsynaptic currents ( J:120941 )

• 40% increase in frequency in hippocampal neurons

• 100% increase in frequency in layer 4 cortical neurons

• median amplitude is similar to wild-type in hippocampal and layer 4 neurons

• treatment with the neural activity blocker, Tetrodotoxin (TTX), does not increase mEPSC in mutant hippocampal cultures in contrast to increases in both amplitude and frequency observed in wild-type

abnormal long-term depression ( J:66246 )

• 900 pulses at 1 Hz enhances baseline LTD, but LTD is unchanged in wild-type

reduced long-term depression ( J:66246 )

• 900 pulses at 0.5 Hz does not induce significant LTD in contrast to wild-type response

Allelic Composition	B2m^tm1Jae/B2m^tm1Jae Themis^tm1Lov/Themis^tm1Lov
Genetic Background	involves: 129

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Jae mutation (8 available); any B2m mutation (122 available)
Themis^tm1Lov mutation (0 available); any Themis mutation (57 available)

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

immune system

abnormal CD8-positive, alpha-beta T cell differentiation ( J:151075 )

• CD3^hi CD8 single-positive thymocytes are present in these mice

• these thymocytes are TCR^hiCD69⁺ which indicates that they received positively selecting signals by interaction with self peptide-MHC class II complexes but are subsequently 'redirected' to the CD8 lineage

hematopoietic system

abnormal CD8-positive, alpha-beta T cell differentiation ( J:151075 )

• CD3^hi CD8 single-positive thymocytes are present in these mice

Allelic Composition	B2m^tm1Jae/B2m^tm1Jae Rr96^tm1.1Yzo/Rr96^tm1.1Yzo
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Jae mutation (8 available); any B2m mutation (122 available)
Rr96^tm1.1Yzo mutation (0 available); any Rr96 mutation (0 available)

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

immune system

abnormal T cell differentiation ( J:130559 )

• the peripheral CD4⁺CD8⁺ double positive T cells observed in Cd4^tm1.1Yzo homozygotes are absent in these mice demonstrating Class I-dependence of this cell population

hematopoietic system

abnormal T cell differentiation ( J:130559 )

• the peripheral CD4⁺CD8⁺ double positive T cells observed in Cd4^tm1.1Yzo homozygotes are absent in these mice demonstrating Class I-dependence of this cell population

Allelic Composition	B2m^tm1Jae/B2m^tm1Jae Rr94^tm3.2Litt/Rr94^tm3.2Litt
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Jae mutation (8 available); any B2m mutation (122 available)
Rr94^tm3.2Litt mutation (0 available); any Rr94 mutation (0 available)

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

immune system

increased T cell proliferation ( J:158962 )

• thymocytes exhibit lymphopenia-induced homeostatic proliferation in the periphery unlike in wild-type mice

abnormal T cell differentiation ( J:158962 )

• mice exhibit a reduction in mature thymocyte output compared with wild-type mice

• however, the expression of CD4 in post-selection thymocytes is normal

• the frequency of TCRbeta^hi thymocyte is decreased 10-fold compared to in wild-type mice

• mice exhibit peripheral TCRbeta<+> T cells that do not express CD4 or CD8 unlike in wild-type mice

abnormal T cell subpopulation ratio ( J:158962 )

• the ratio of CD4 single positive to CD8 single positive T cells is inverted compared to in wild-type mice

decreased CD4-positive, alpha-beta T cell number ( J:158962 )

• in the thymus

increased CD8-positive, alpha-beta T cell number ( J:158962 )

• in the thymus

hematopoietic system

increased T cell proliferation ( J:158962 )

• thymocytes exhibit lymphopenia-induced homeostatic proliferation in the periphery unlike in wild-type mice

abnormal T cell differentiation ( J:158962 )

• the frequency of TCRbeta^hi thymocyte is decreased 10-fold compared to in wild-type mice

• mice exhibit peripheral TCRbeta<+> T cells that do not express CD4 or CD8 unlike in wild-type mice

• mice exhibit a reduction in mature thymocyte output compared with wild-type mice

• however, the expression of CD4 in post-selection thymocytes is normal

abnormal T cell subpopulation ratio ( J:158962 )

• the ratio of CD4 single positive to CD8 single positive T cells is inverted compared to in wild-type mice

decreased CD4-positive, alpha-beta T cell number ( J:158962 )

• in the thymus

increased CD8-positive, alpha-beta T cell number ( J:158962 )

• in the thymus

cellular

increased T cell proliferation ( J:158962 )

• thymocytes exhibit lymphopenia-induced homeostatic proliferation in the periphery unlike in wild-type mice

Allelic Composition	B2m^tm1Jae/B2m^tm1Jae Foxp3^sf Otc^spf/Y
Genetic Background	involves: 129/Rl * 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Jae mutation (8 available); any B2m mutation (122 available)
Foxp3^sf mutation (5 available); any Foxp3 mutation (58 available)
Otc^spf mutation (9 available); any Otc mutation (22 available)

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

growth/size/body

decreased body size ( J:20865 )

enlarged spleen ( J:20865 )

immune system

increased plasma cell number ( J:20865 )

• plasma cell hyperplasia within the spleen and lymph nodes

increased CD4-positive, alpha-beta T cell number ( J:20865 )

• greater percentage of CD45RB^dullCD4+ T cells than in homozygous B2m mice

increased immunoglobulin level ( J:20865 )

increased IgG level ( J:20865 )

increased IgM level ( J:20865 )

abnormal interleukin level ( J:20865 )

• increased amounts of IL-4, IL-6, and IL-10 and decreased amounts of IL-2 in Con A stimulated day 16 splenocytes

abnormal tumor necrosis factor level ( J:20865 )

• decreased amount of TNF-alpha in Con A stimulated day 16 splenocytes

abnormal immune system organ morphology ( J:20865 )

enlarged spleen ( J:20865 )

abnormal lymph node morphology ( J:20865 )

• complete disruption of normal architecture, with abundant lymphoblasts and reticular cell hyperplasia

enlarged lymph nodes ( J:20865 )

dermatitis ( J:20865 )

• exfoliative dermatitis

hematopoietic system

enlarged spleen ( J:20865 )

anemia ( J:20865 )

decreased hematocrit ( J:20865 )

increased plasma cell number ( J:20865 )

• plasma cell hyperplasia within the spleen and lymph nodes

increased CD4-positive, alpha-beta T cell number ( J:20865 )

• greater percentage of CD45RB^dullCD4+ T cells than in homozygous B2m mice

increased immunoglobulin level ( J:20865 )

increased IgG level ( J:20865 )

increased IgM level ( J:20865 )

homeostasis/metabolism

abnormal interleukin level ( J:20865 )

• increased amounts of IL-4, IL-6, and IL-10 and decreased amounts of IL-2 in Con A stimulated day 16 splenocytes

abnormal tumor necrosis factor level ( J:20865 )

• decreased amount of TNF-alpha in Con A stimulated day 16 splenocytes

integument

dermatitis ( J:20865 )

• exfoliative dermatitis

Allelic Composition	B2m^tm1Jae/B2m^tm1Jae Zbtb7b^tm1Litt/Zbtb7b^tm1.2Litt
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Jae mutation (8 available); any B2m mutation (122 available)
Zbtb7b^tm1.2Litt mutation (1 available); any Zbtb7b mutation (26 available)
Zbtb7b^tm1Litt mutation (0 available); any Zbtb7b mutation (26 available)

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

immune system

abnormal CD8-positive, alpha-beta T cell differentiation ( J:141144 )

• single-positive CD8⁺ cells are found among mature thymocytes compared to mice null for just the B2m locus that have no mature CD8⁺ thymocytes

abnormal double-positive T cell morphology ( J:141144 )

• an unusual double-positive thymocyte population exists that has surface markers of mature single positive thymocytes (HSA^lo-neg TCRbeta^hi) and may represent single-positive CD4⁺ thymoyctes that are redirected to a CD8⁺ T cell lineage

hematopoietic system

abnormal CD8-positive, alpha-beta T cell differentiation ( J:141144 )

• single-positive CD8⁺ cells are found among mature thymocytes compared to mice null for just the B2m locus that have no mature CD8⁺ thymocytes

abnormal double-positive T cell morphology ( J:141144 )

Allelic Composition	B2m^tm1Jae/B2m^tm1Jae Cd4^tm1Jrp/Cd4^tm1Jrp
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Jae mutation (8 available); any B2m mutation (122 available)
Cd4^tm1Jrp mutation (0 available); any Cd4 mutation (85 available)

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

hematopoietic system

increased CD8-positive, alpha-beta T cell number ( J:45168 )

• an increase in CD8+ T cells similar to that seen in single Cd4^tm1Jrp mutants

immune system

increased CD8-positive, alpha-beta T cell number ( J:45168 )

• an increase in CD8+ T cells similar to that seen in single Cd4^tm1Jrp mutants

Allelic Composition	B2m^tm1Jae/B2m^tm1Jae Tg(LckNotch1)9Erob/?
Genetic Background	involves: 129S2/SvPas * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Jae mutation (8 available); any B2m mutation (122 available)
Tg(LckNotch1)9Erob mutation (1 available)

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

immune system

increased CD8-positive, alpha-beta T cell number ( J:93005 )

• mice have 2-fold more mature single-positive CD8 thymocytes than wild-type mice and over a 1000-fold more than fold in B2m^tm1Jae homozygote controls

• in the periphery, CD8⁺ T cells make up 2% of the lymph node population compared to less than 0.1% for B2m^tm1Jae homozygote controls

lymph node hypoplasia ( J:93005 )

• lymph node cellularity is 25% that of controls, with a normal ratio between CD4⁺ and CD8⁺ T cells

hematopoietic system

increased CD8-positive, alpha-beta T cell number ( J:93005 )

• mice have 2-fold more mature single-positive CD8 thymocytes than wild-type mice and over a 1000-fold more than fold in B2m^tm1Jae homozygote controls

• in the periphery, CD8⁺ T cells make up 2% of the lymph node population compared to less than 0.1% for B2m^tm1Jae homozygote controls

Allelic Composition	B2m^tm1Jae/B2m^tm1Jae Tg(H2-K-Cd86)27All/0
Genetic Background	involves: 129S2/SvPas * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Jae mutation (8 available); any B2m mutation (122 available)
Tg(H2-K-Cd86)27All mutation (0 available)

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

hematopoietic system

absent B cells ( J:112475 )

• no B cells are detected in blood of B2m-deficient transgenic mice

immune system

absent B cells ( J:112475 )

• no B cells are detected in blood of B2m-deficient transgenic mice

Allelic Composition	B2m^tm1Jae/B2m^tm1Jae Tox^tm1.1Kay/Tox^tm1.1Kay
Genetic Background	involves: 129S6/SvEvTac * 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Jae mutation (8 available); any B2m mutation (122 available)
Tox^tm1.1Kay mutation (0 available); any Tox mutation (39 available)

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

immune system

abnormal CD8-positive, alpha-beta T cell number ( J:131287 )

• about twice as much CD8⁺ T cells are found in the thymus of double knockouts compared to mice homozygote for just the B2m^tm1Jae allele

• about 5-fold more CD8⁺ T cells are found in the spleen of double knockouts compared to mice homozygote for just the B2m^tm1Jae allele

• numbers of CD8⁺ T cells in both the thymus and spleen are still well below normal numbers indicating the vast majority of CD8⁺ T cells are Class I-dependent

hematopoietic system

abnormal CD8-positive, alpha-beta T cell number ( J:131287 )

• about twice as much CD8⁺ T cells are found in the thymus of double knockouts compared to mice homozygote for just the B2m^tm1Jae allele

• about 5-fold more CD8⁺ T cells are found in the spleen of double knockouts compared to mice homozygote for just the B2m^tm1Jae allele

• numbers of CD8⁺ T cells in both the thymus and spleen are still well below normal numbers indicating the vast majority of CD8⁺ T cells are Class I-dependent

Allelic Composition	B2m^tm1Jae/B2m^tm1Jae Tnf^tm2Gkl/Tnf⁺
Genetic Background	involves: 129S/SvEv * 129S2/SvPas * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Jae mutation (8 available); any B2m mutation (122 available)
Tnf^tm2Gkl mutation (1 available); any Tnf mutation (48 available)

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

immune system

small intestinal inflammation ( J:108572 )

• mice display delayed development and attenuation of inflammatory bowel disease

digestive/alimentary system

small intestinal inflammation ( J:108572 )

• mice display delayed development and attenuation of inflammatory bowel disease

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