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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
B2mtm1Jae
targeted mutation 1, Rudolf Jaenisch
MGI:1927183
Summary 15 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
B2mtm1Jae/B2mtm1Jae B6.129S2-B2mtm1Jae MGI:3617412
hm2
B2mtm1Jae/B2mtm1Jae involves: 129S2/SvPas MGI:3576233
hm3
B2mtm1Jae/B2mtm1Jae involves: 129S2/SvPas * C57BL/6J MGI:2175714
cn4
B2mtm1Jae/B2mtm1Jae
Tg(B2m)1Rms/0
Tg(INS-cre)2Rms/0
involves: 129S2/SvPas * NOD MGI:2663960
cx5
B2mtm1Jae/B2mtm1Jae
Tap1tm1Hpl/Tap1tm1Hpl
B6.129-B2mtm1Jae Tap1tm1Hpl MGI:5009810
cx6
B2mtm1Jae/B2mtm1Jae
Themistm1Lov/Themistm1Lov
involves: 129 MGI:4353391
cx7
B2mtm1Jae/B2mtm1Jae
Rr96tm1.1Yzo/Rr96tm1.1Yzo
involves: 129P2/OlaHsd * 129S2/SvPas MGI:3808859
cx8
B2mtm1Jae/B2mtm1Jae
Rr94tm3.2Litt/Rr94tm3.2Litt
involves: 129P2/OlaHsd * 129S2/SvPas * FVB/N MGI:4452093
cx9
B2mtm1Jae/B2mtm1Jae
Foxp3sfOtcspf/Y
involves: 129/Rl * 129S2/SvPas MGI:3590073
cx10
B2mtm1Jae/B2mtm1Jae
Zbtb7btm1Litt/Zbtb7btm1.2Litt
involves: 129S2/SvPas * C57BL/6 MGI:3821710
cx11
B2mtm1Jae/B2mtm1Jae
Cd4tm1Jrp/Cd4tm1Jrp
involves: 129S2/SvPas * C57BL/6 MGI:3652734
cx12
B2mtm1Jae/B2mtm1Jae
Tg(LckNotch1)9Erob/?
involves: 129S2/SvPas * C57BL/6 * CBA MGI:3834935
cx13
B2mtm1Jae/B2mtm1Jae
Tg(H2-K-Cd86)27All/0
involves: 129S2/SvPas * C57BL/6 * CBA MGI:3662644
cx14
B2mtm1Jae/B2mtm1Jae
Toxtm1.1Kay/Toxtm1.1Kay
involves: 129S6/SvEvTac * 129S2/SvPas MGI:3807779
cx15
B2mtm1Jae/B2mtm1Jae
Tnftm2Gkl/Tnf+
involves: 129S/SvEv * 129S2/SvPas * C57BL/6J MGI:3629515


Genotype
MGI:3617412
hm1
Allelic
Composition
B2mtm1Jae/B2mtm1Jae
Genetic
Background
B6.129S2-B2mtm1Jae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2mtm1Jae mutation (8 available); any B2m mutation (122 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• spleen and lymph node cells produce an average of 5-fold higher levels of IL-3
• 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
• spleen and lymph node cells produce an average of 3.7-fold higher levels of LT-TNF
• 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
• area of the ipsilateral projection is increased compared to controls




Genotype
MGI:3576233
hm2
Allelic
Composition
B2mtm1Jae/B2mtm1Jae
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2mtm1Jae mutation (8 available); any B2m mutation (122 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• 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

immune system

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




Genotype
MGI:2175714
hm3
Allelic
Composition
B2mtm1Jae/B2mtm1Jae
Genetic
Background
involves: 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2mtm1Jae mutation (8 available); any B2m mutation (122 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• 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)
• 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 frequency of gamma-delta+ T cells in the intestinal epithelium
• spleen cells did not contain cytotoxic T lymphocyte precursors
• spleen cells fail to generate allo-specific cytotoxic T lympocyte response when stimulated with BALB/c (H-2d) spleen cells

immune system
• 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)
• 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 frequency of gamma-delta+ T cells in the intestinal epithelium
• spleen cells did not contain cytotoxic T lymphocyte precursors
• spleen cells fail to generate allo-specific cytotoxic T lympocyte response when stimulated with BALB/c (H-2d) spleen cells




Genotype
MGI:2663960
cn4
Allelic
Composition
B2mtm1Jae/B2mtm1Jae
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:
B2mtm1Jae 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
• 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




Genotype
MGI:5009810
cx5
Allelic
Composition
B2mtm1Jae/B2mtm1Jae
Tap1tm1Hpl/Tap1tm1Hpl
Genetic
Background
B6.129-B2mtm1Jae Tap1tm1Hpl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2mtm1Jae mutation (8 available); any B2m mutation (122 available)
Tap1tm1Hpl mutation (1 available); any Tap1 mutation (50 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 52% of P13 mice and 57% of adult mice have enlarged lateral ventricles
• 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
• increase in size of excitatory presynaptic boutons
• mice exhibit significantly fewer perforations at hippocampal synapses that wild-type
• presynaptic nerve terminals contain 10% more synaptic vesicles than wild-type
• LTP in response to tetanus is enhanced by approximately 227% as compared to wild type
• 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
• 900 pulses at 1 Hz enhances baseline LTD, but LTD is unchanged in wild-type
• 900 pulses at 0.5 Hz does not induce significant LTD in contrast to wild-type response




Genotype
MGI:4353391
cx6
Allelic
Composition
B2mtm1Jae/B2mtm1Jae
Themistm1Lov/Themistm1Lov
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2mtm1Jae mutation (8 available); any B2m mutation (122 available)
Themistm1Lov mutation (0 available); any Themis mutation (55 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• CD3hi CD8 single-positive thymocytes are present in these mice
• these thymocytes are TCRhiCD69+ 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
• CD3hi CD8 single-positive thymocytes are present in these mice
• these thymocytes are TCRhiCD69+ 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




Genotype
MGI:3808859
cx7
Allelic
Composition
B2mtm1Jae/B2mtm1Jae
Rr96tm1.1Yzo/Rr96tm1.1Yzo
Genetic
Background
involves: 129P2/OlaHsd * 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2mtm1Jae mutation (8 available); any B2m mutation (122 available)
Rr96tm1.1Yzo mutation (0 available); any Rr96 mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• the peripheral CD4+CD8+ double positive T cells observed in Cd4tm1.1Yzo homozygotes are absent in these mice demonstrating Class I-dependence of this cell population

hematopoietic system
• the peripheral CD4+CD8+ double positive T cells observed in Cd4tm1.1Yzo homozygotes are absent in these mice demonstrating Class I-dependence of this cell population




Genotype
MGI:4452093
cx8
Allelic
Composition
B2mtm1Jae/B2mtm1Jae
Rr94tm3.2Litt/Rr94tm3.2Litt
Genetic
Background
involves: 129P2/OlaHsd * 129S2/SvPas * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2mtm1Jae mutation (8 available); any B2m mutation (122 available)
Rr94tm3.2Litt mutation (0 available); any Rr94 mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• thymocytes exhibit lymphopenia-induced homeostatic proliferation in the periphery unlike in wild-type mice
• the frequency of TCRbetahi 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
• the ratio of CD4 single positive to CD8 single positive T cells is inverted compared to in wild-type mice

hematopoietic system
• thymocytes exhibit lymphopenia-induced homeostatic proliferation in the periphery unlike in wild-type mice
• the frequency of TCRbetahi 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
• the ratio of CD4 single positive to CD8 single positive T cells is inverted compared to in wild-type mice

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




Genotype
MGI:3590073
cx9
Allelic
Composition
B2mtm1Jae/B2mtm1Jae
Foxp3sfOtcspf/Y
Genetic
Background
involves: 129/Rl * 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2mtm1Jae mutation (8 available); any B2m mutation (122 available)
Foxp3sf mutation (5 available); any Foxp3 mutation (55 available)
Otcspf mutation (9 available); any Otc mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

immune system
• plasma cell hyperplasia within the spleen and lymph nodes
• greater percentage of CD45RBdullCD4+ T cells than in homozygous B2m mice
• increased amounts of IL-4, IL-6, and IL-10 and decreased amounts of IL-2 in Con A stimulated day 16 splenocytes
• decreased amount of TNF-alpha in Con A stimulated day 16 splenocytes
• complete disruption of normal architecture, with abundant lymphoblasts and reticular cell hyperplasia
• exfoliative dermatitis

hematopoietic system
• plasma cell hyperplasia within the spleen and lymph nodes
• greater percentage of CD45RBdullCD4+ T cells than in homozygous B2m mice

homeostasis/metabolism
• increased amounts of IL-4, IL-6, and IL-10 and decreased amounts of IL-2 in Con A stimulated day 16 splenocytes
• decreased amount of TNF-alpha in Con A stimulated day 16 splenocytes

integument
• exfoliative dermatitis




Genotype
MGI:3821710
cx10
Allelic
Composition
B2mtm1Jae/B2mtm1Jae
Zbtb7btm1Litt/Zbtb7btm1.2Litt
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2mtm1Jae mutation (8 available); any B2m mutation (122 available)
Zbtb7btm1.2Litt mutation (1 available); any Zbtb7b mutation (24 available)
Zbtb7btm1Litt mutation (0 available); any Zbtb7b mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• single-positive CD8+ cells are found among mature thymocytes compared to mice null for just the B2m locus that have no mature CD8+ thymocytes
• an unusual double-positive thymocyte population exists that has surface markers of mature single positive thymocytes (HSAlo-neg TCRbetahi) and may represent single-positive CD4+ thymoyctes that are redirected to a CD8+ T cell lineage

hematopoietic system
• single-positive CD8+ cells are found among mature thymocytes compared to mice null for just the B2m locus that have no mature CD8+ thymocytes
• an unusual double-positive thymocyte population exists that has surface markers of mature single positive thymocytes (HSAlo-neg TCRbetahi) and may represent single-positive CD4+ thymoyctes that are redirected to a CD8+ T cell lineage




Genotype
MGI:3652734
cx11
Allelic
Composition
B2mtm1Jae/B2mtm1Jae
Cd4tm1Jrp/Cd4tm1Jrp
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2mtm1Jae mutation (8 available); any B2m mutation (122 available)
Cd4tm1Jrp mutation (0 available); any Cd4 mutation (82 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• an increase in CD8+ T cells similar to that seen in single Cd4tm1Jrp mutants

immune system
• an increase in CD8+ T cells similar to that seen in single Cd4tm1Jrp mutants




Genotype
MGI:3834935
cx12
Allelic
Composition
B2mtm1Jae/B2mtm1Jae
Tg(LckNotch1)9Erob/?
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2mtm1Jae 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
• mice have 2-fold more mature single-positive CD8 thymocytes than wild-type mice and over a 1000-fold more than fold in B2mtm1Jae homozygote controls
• in the periphery, CD8+ T cells make up 2% of the lymph node population compared to less than 0.1% for B2mtm1Jae homozygote controls
• lymph node cellularity is 25% that of controls, with a normal ratio between CD4+ and CD8+ T cells

hematopoietic system
• mice have 2-fold more mature single-positive CD8 thymocytes than wild-type mice and over a 1000-fold more than fold in B2mtm1Jae homozygote controls
• in the periphery, CD8+ T cells make up 2% of the lymph node population compared to less than 0.1% for B2mtm1Jae homozygote controls




Genotype
MGI:3662644
cx13
Allelic
Composition
B2mtm1Jae/B2mtm1Jae
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:
B2mtm1Jae 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
• no B cells are detected in blood of B2m-deficient transgenic mice

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




Genotype
MGI:3807779
cx14
Allelic
Composition
B2mtm1Jae/B2mtm1Jae
Toxtm1.1Kay/Toxtm1.1Kay
Genetic
Background
involves: 129S6/SvEvTac * 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2mtm1Jae mutation (8 available); any B2m mutation (122 available)
Toxtm1.1Kay mutation (0 available); any Tox mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• about twice as much CD8+ T cells are found in the thymus of double knockouts compared to mice homozygote for just the B2mtm1Jae allele
• about 5-fold more CD8+ T cells are found in the spleen of double knockouts compared to mice homozygote for just the B2mtm1Jae 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
• about twice as much CD8+ T cells are found in the thymus of double knockouts compared to mice homozygote for just the B2mtm1Jae allele
• about 5-fold more CD8+ T cells are found in the spleen of double knockouts compared to mice homozygote for just the B2mtm1Jae 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




Genotype
MGI:3629515
cx15
Allelic
Composition
B2mtm1Jae/B2mtm1Jae
Tnftm2Gkl/Tnf+
Genetic
Background
involves: 129S/SvEv * 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2mtm1Jae mutation (8 available); any B2m mutation (122 available)
Tnftm2Gkl mutation (1 available); any Tnf mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• mice display delayed development and attenuation of inflammatory bowel disease

digestive/alimentary system
• mice display delayed development and attenuation of inflammatory bowel disease





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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory