All Phenotypes B2m<tm1Unc> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

B2m^tm1Unc
targeted mutation 1, University of North Carolina
MGI:1857133

Summary

31 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	B2m^tm1Unc/B2m^tm1Unc	B6.129P2-B2m^tm1Unc/DcrJ	MGI:3722074
hm2	B2m^tm1Unc/B2m^tm1Unc	involves: 129P2/OlaHsd * C57BL/6	MGI:3576257
hm3	B2m^tm1Unc/B2m^tm1Unc	involves: 129P2/OlaHsd * NOD/Lt	MGI:3640344
hm4	B2m^tm1Unc/B2m^tm1Unc	NOD.129P2-B2m^tm1Unc	MGI:3623523
ht5	B2m^tm1Unc/B2m⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:3762580
cn6	B2m^tm1Unc/B2m^tm1Unc Il2rg^tm1.1Asin/Il2rg^tm1Wjl Tg(Cd8a*-cre)B8Asin/0	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6	MGI:5469014
cn7	B2m^tm1Unc/B2m^tm1Unc Il7r^tm1.1Asin/Il7r^tm1Imx Tg(Cd8a*-cre)B8Asin/0	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6	MGI:5469010
cx8	B2m^tm1Unc/B2m^tm1Unc X/Yaa	BXSB.129P2(B6)-B2m^tm1Unc/Dcr	MGI:6094201
cx9	B2m^tm1Unc/B2m^tm1Unc Tespa1^tm1Smoc/Tespa1^tm1Smoc	involves: 129 * 129P2/OlaHsd * C57BL/6	MGI:5432920
cx10	B2m^tm1Unc/B2m^tm1Unc Il2^tm1Hor/Il2^tm1Hor	involves: 129 * C57BL/6	MGI:3576258
cx11	B2m^tm1Unc/B2m^tm1Unc Cd4^tm1Mak/Cd4^tm1Mak Cd8a^{tm2.1(Cd4)Asin}/Cd8a^{tm2.1(Cd4)Asin}	involves: 129 * C57BL/6	MGI:5309023
cx12	B2m^tm1Unc/B2m^tm1Unc Il2^tm1Hor/Il2^tm1Hor	involves: 129P2/OlaHsd	MGI:3798945
cx13	B2m^tm1Unc/B2m^tm1Unc Zbtb7b^tm4.1Itan/Zbtb7b^tm4.1Itan	involves: 129P2/OlaHsd	MGI:5486340
cx14	B2m^tm1Unc/B2m^tm1Unc H2-Ab1^b-tm1Doi/H2-Ab1^b-tm1Doi	involves: 129P2/OlaHsd * 129S2/SvPas	MGI:4949108
cx15	B2m^tm1Unc/B2m^tm1Unc H2-Ab1^b-tm1Doi/H2-Ab1^b-tm1Doi Lat^tm1.1Mal/Lat^tm1.1Mal	involves: 129P2/OlaHsd * 129S2/SvPas	MGI:3770644
cx16	B2m^tm1Unc/B2m^tm1Unc Lat^tm1.1Mal/Lat^tm1.1Mal	involves: 129P2/OlaHsd * 129S2/SvPas	MGI:3770643
cx17	B2m^tm1Unc/B2m^tm1Unc Irf2^tm1Mak/Irf2^tm1Mak	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6	MGI:3630269
cx18	B2m^tm1Unc/B2m^tm1Unc Tbp^tm1.1Ees/Tbp^tm1.1Ees	involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6	MGI:3720051
cx19	B2m^tm1Unc/B2m^tm1Unc Rr381^em2Kap/Rr381^em2Kap	involves: 129P2/OlaHsd * C57BL/6	MGI:7439201
cx20	B2m^tm1Unc/B2m^tm1Unc H2-D1^b-tm1Bpe/H2-D1^b-tm1Bpe	involves: 129P2/OlaHsd * C57BL/6	MGI:3623482
cx21	B2m^tm1Unc/B2m^tm1Unc Tg(GFAP-B2m)9Mdos/?	involves: 129P2/OlaHsd * C57BL/6 * NOD/ShiLtJ	MGI:3790777
cx22	B2m^tm1Unc/B2m^tm1Unc Tg(GFAP-B2m)#Mdos/?	involves: 129P2/OlaHsd * C57BL/6 * NOD/ShiLtJ	MGI:3790780
cx23	B2m^tm1Unc/B2m^tm1Unc Hfe^tm2Nca/Hfe^tm2Nca	involves: 129S6/SvEvTac * C57BL/6J	MGI:2655484
cx24	B2m^tm1Unc/B2m^tm1Unc Ciita^tm1Ccum/Ciita^tm1Ccum	NOD.Cg-B2m^tm1Unc Ciita^tm1Ccum	MGI:3620137
cx25	B2m^tm1Unc/B2m^tm1Unc H2-Ab1^b-tm1Gru/H2-Ab1^b-tm1Gru Tg(CD2-CD4,HLA-DQA1,HLA-DQB1)1Ell/Tg(CD2-CD4,HLA-DQA1,HLA-DQB1)1Ell	NOD.Cg-B2m^tm1Unc H2-Ab1^b-tm1Gru Tg(CD2-CD4,HLA-DQA1,HLA-DQB1)1Ell	MGI:3687124
cx26	B2m^tm1Unc/B2m^tm1Unc Emv30^b/Emv30^b Prkdc^scid/Prkdc^scid Tg(B2M)55Hpl/? Mcph1^{Tg(HLA-A2.1)1Enge}/?	NOD.Cg-B2m^tm1Unc Mcph1^{Tg(HLA-A2.1)1Enge} Emv30^b Prkdc^scid Tg(B2M)55Hpl/Dvs	MGI:5707036
cx27	B2m^tm1Unc/B2m^tm1Unc Tg(B2M)55Hpl/Tg(B2M)55Hpl Mcph1^{Tg(HLA-A2.1)1Enge}/Mcph1^{Tg(HLA-A2.1)1Enge}	NOD.Cg-B2m^tm1Unc Mcph1^{Tg(HLA-A2.1)1Enge} Tg(B2M)55Hpl	MGI:3723607
cx28	B2m^tm1Unc/B2m^tm1Unc Prkdc^scid/Prkdc^scid	NOD.Cg-B2m^tm1Unc Prkdc^scid	MGI:3607137
cx29	B2m^tm1Unc/B2m^tm1Unc Tg(B2M)55Hpl/0	NOD.Cg-B2m^tm1Unc Tg(B2M)55Hpl/Dvs	MGI:3844912
cx30	B2m^tm1Unc/B2m^tm1Unc Tg(HLA-A/H2-D/B2M)1Dvs/0	NOD.Cg-B2m^tm1Unc Tg(HLA-A/H2-D/B2M)1Dvs	MGI:3711109
cx31	B2m^tm1Unc/B2m^tm1Unc Tg(TcraAI4)1Dvs/0 Tg(TcrbAI4)1Dvs/0	NOD.Cg-B2m^tm1Unc Tg(TcraAI4)1Dvs Tg(TcrbAI4)1Dvs	MGI:3618703

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc
Genetic Background	B6.129P2-B2m^tm1Unc/DcrJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)

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

mortality/aging

increased susceptibility to infection induced morbidity/mortality ( J:123934 )

• following infection with either a low or high dose of IOE, 90% of mice survive a low dose and all mice succumb to a high dose

immune system

increased T-helper 1 cell number ( J:123934 )

• following infection with a monocytotropic Ehrlichia bacteria from Ixodes ovatrus ticks (IOE), the number of interferon-gamma producing CD4+ Th1 cells in the spleen on day 8 and day 12 is increased relative to in infected wild-type mice

decreased CD8-positive, alpha-beta T cell number ( J:123934 )

• following infection with a monocytotropic Ehrlichia bacteria from Ixodes ovatrus ticks (IOE), CD8+ T cells in the spleen are reduced (1.5%+/-0.1% of splenocytes compared to 9.7%+/-0.7% of splenocytes in wild-type mice)

• in uninfected mice the number of CD8+ T cells in the spleen is reduced compared to in wild-type mice

decreased IgG level ( J:110885 )

increased IgM level ( J:110885 )

abnormal interleukin level ( J:123934 )

• following infection with a lethal low dose of a monocytotropic Ehrlichia bacteria from Ixodes ovatrus ticks (IOE), induces less IL-10 than in infected wild-type mice

abnormal tumor necrosis factor level ( J:123934 )

• following infection with a lethal low dose of a monocytotropic Ehrlichia bacteria from Ixodes ovatrus ticks (IOE), induces less TNF-alpha than in infected wild-type mice

decreased susceptibility to autoimmune diabetes ( J:135214 )

• mice do not develop spontaneous diabetes compared to wild-type NOD controls

• when splenocytes from diabetic donors are transferred into lethally-irradiated 8-week old recipients, female mice remain normoglycemic for about 17 weeks before developing hyperglycemia/diabetes; kinetics are much slower than in B2m-null, Tg(GFAP-B2m)Mdos (line 9 or 14) transgenic mice

decreased susceptibility to bacterial infection ( J:123934 )

• mice are highly resistant to infection with a monocytotropic Ehrlichia bacteria from Ixodes ovatrus ticks (IOE) following infection with either a low or high dose of IOE, 90% of mice survive a low dose with mild illness and all mice succumb to a high dose

• following infection with IEO, CD8+ T cells in the spleen are reduced (1.5%+/-0.1% of splenocytes compared to 9.7%+/-0.7% of splenocytes in wild-type mice)

• mice have lower burdens of Ehrlichia bacteria in the lungs and spleen following infection than do wild-type mice

• at day 12 and 14 post-infection with a lethal low dose of IEO, mice exhibit only mild liver pathology, few apoptotic foci in the liver and preserved lymphoid tissue cellularity

increased susceptibility to infection induced morbidity/mortality ( J:123934 )

• following infection with either a low or high dose of IOE, 90% of mice survive a low dose and all mice succumb to a high dose

hematopoietic system

increased T-helper 1 cell number ( J:123934 )

decreased CD8-positive, alpha-beta T cell number ( J:123934 )

• in uninfected mice the number of CD8+ T cells in the spleen is reduced compared to in wild-type mice

decreased IgG level ( J:110885 )

increased IgM level ( J:110885 )

endocrine/exocrine glands

abnormal pancreas morphology ( J:135214 )

• mice develop peri-islet T cell aggregates >30 weeks of age

homeostasis/metabolism

decreased circulating serum albumin level ( J:110885 )

abnormal interleukin level ( J:123934 )

• following infection with a lethal low dose of a monocytotropic Ehrlichia bacteria from Ixodes ovatrus ticks (IOE), induces less IL-10 than in infected wild-type mice

abnormal tumor necrosis factor level ( J:123934 )

• following infection with a lethal low dose of a monocytotropic Ehrlichia bacteria from Ixodes ovatrus ticks (IOE), induces less TNF-alpha than in infected wild-type mice

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)

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

immune system

abnormal T cell number ( J:113083 )

• mucosal-associated invariant T cells (MAIT) that express the canonical mVa19-Ja33 TCR rearrangement and are typically found in the gut lamina propia are virtually absent in these mice

• when wild-type bone marrow is transferred into these mice, MAIT T cells are found in the gut

• when these mice serve as bone marrow donors, MAIT T cells are absent in the gut of irradiated hosts

absent CD8-positive, alpha-beta T cells ( J:64451 )

• deficient in CD4-CD8+ T cells

• CD8+CD4- T cells from the thymus of five week old mice are almost non-existent in comparison to control (0.8% vs. 6.7%), however, total numbers of alpha beta T cells and CD8-CD4+ T cells do not differ significantly from control

decreased level of surface class I molecules ( J:64451 )

• surface expression of class I molecules in cells from lymph nodes, spleen and thymus cannot be detected by flow cytometry

hematopoietic system

abnormal T cell number ( J:113083 )

• mucosal-associated invariant T cells (MAIT) that express the canonical mVa19-Ja33 TCR rearrangement and are typically found in the gut lamina propia are virtually absent in these mice

• when wild-type bone marrow is transferred into these mice, MAIT T cells are found in the gut

• when these mice serve as bone marrow donors, MAIT T cells are absent in the gut of irradiated hosts

absent CD8-positive, alpha-beta T cells ( J:64451 )

• deficient in CD4-CD8+ T cells

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc
Genetic Background	involves: 129P2/OlaHsd * NOD/Lt

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)

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

endocrine/exocrine glands

insulitis ( J:93557 )

• 10-11 week old mice of the fourth backcross generation to NOD/Lt mice are completely free of insulitis compared to NOD controls which develop insulitis by 6-8 weeks

immune system

insulitis ( J:93557 )

• 10-11 week old mice of the fourth backcross generation to NOD/Lt mice are completely free of insulitis compared to NOD controls which develop insulitis by 6-8 weeks

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc
Genetic Background	NOD.129P2-B2m^tm1Unc

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)

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

endocrine/exocrine glands

abnormal pancreatic beta cell morphology ( J:17000 )

• homozygous-null NOD mice show almost no insulitis and still possess normal beta cells; control NOD mice show insulitis and a high degree of beta cell destruction

immune system

absent CD8-positive, alpha-beta T cells ( J:121685 )

• mice lack CD8+ T cells

decreased susceptibility to autoimmune diabetes ( J:17000 , J:121685 )

• no homozygous mice become diabetic by 4 months of age, while over 70% of control NOD mice become diabetic (blood glucose >16.7 mM; positive urine glucose test) by 4 months of age (J:17000)

• females remain disease-free compared (J:121685)

hematopoietic system

absent CD8-positive, alpha-beta T cells ( J:121685 )

• mice lack CD8+ T cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	type 1 diabetes mellitus	DOID:9744	OMIM:222100	J:17000

Allelic Composition	B2m^tm1Unc/B2m⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)

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

immune system

decreased CD8-positive, alpha-beta T cell number ( J:64451 )

• numbers of CD8+CD4- T cells from the thymus of five week old mice are reduced in comparison to control (4.9% vs. 6.7%), however, in peripheral lymphoid tissues numbers of CD8+CD4- T cells do not differ from control

decreased level of surface class I molecules ( J:64451 )

• surface expression of class I molecules in cells from lymph nodes are reduced in comparison to control

hematopoietic system

decreased CD8-positive, alpha-beta T cell number ( J:64451 )

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Il2rg^tm1.1Asin/Il2rg^tm1Wjl Tg(Cd8a*-cre)B8Asin/0
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Il2rg^tm1.1Asin mutation (1 available); any Il2rg mutation (168 available)
Il2rg^tm1Wjl mutation (77 available); any Il2rg mutation (168 available)
Tg(Cd8a*-cre)B8Asin mutation (1 available)

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

immune system

decreased CD8-positive, alpha-beta T cell number ( J:190889 )

• in the thymus

hematopoietic system

decreased CD8-positive, alpha-beta T cell number ( J:190889 )

• in the thymus

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Il7r^tm1.1Asin/Il7r^tm1Imx Tg(Cd8a*-cre)B8Asin/0
Genetic Background	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Il7r^tm1.1Asin mutation (1 available); any Il7r mutation (29 available)
Il7r^tm1Imx mutation (4 available); any Il7r mutation (29 available)
Tg(Cd8a*-cre)B8Asin mutation (1 available)

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

immune system

decreased CD8-positive, alpha-beta T cell number ( J:190889 )

• in the thymus

hematopoietic system

decreased CD8-positive, alpha-beta T cell number ( J:190889 )

• in the thymus

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc X/Yaa
Genetic Background	BXSB.129P2(B6)-B2m^tm1Unc/Dcr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Yaa mutation (18 available); any Yaa mutation (21 available)

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

immune system

increased susceptibility to systemic lupus erythematosus ( J:179430 )

• while BXSB/MpJ males develop SLE-like disease and have a mean survival of 32 weeks, males also homozygous for this null allele of beta-2 microglobulin die much earlier, with a mean survival of only 18 weeks

increased anti-nuclear antigen antibody level ( J:179430 )

• despite the inability to generate serum IgG, there is increased anti-nuclear antibodies in the serum at 14 weeks of age, that is higher than that of BXSB/MpJ males with normal B2M expression

mortality/aging

premature death ( J:179430 )

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Tespa1^tm1Smoc/Tespa1^tm1Smoc
Genetic Background	involves: 129 * 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Tespa1^tm1Smoc mutation (1 available); any Tespa1 mutation (33 available)

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

immune system

abnormal CD8-positive, alpha beta T cell morphology ( J:186446 )

• unlike in B2m^tm1Unc homozygotes, CD8+ single positive thymocytes are detected in the thymus and spleen

hematopoietic system

abnormal CD8-positive, alpha beta T cell morphology ( J:186446 )

• unlike in B2m^tm1Unc homozygotes, CD8+ single positive thymocytes are detected in the thymus and spleen

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Il2^tm1Hor/Il2^tm1Hor
Genetic Background	involves: 129 * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Il2^tm1Hor mutation (5 available); any Il2 mutation (41 available)

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

immune system

colitis ( J:39981 , J:51450 )

• colitis progresses faster in these mice compared to mice with targeted mutations of just the Il2 gene (J:39981)

• 75% have colitis at 6-12 months of age (J:51450)

abnormal CD4-positive T cell differentiation ( J:39981 )

• T cells isolated from lymph nodes and the colon have markers indicating an activated or memory-like phenotype

abnormal CD8-positive, alpha beta T cell morphology ( J:51450 )

• mesenteric lymph nodes do not contain CD8+ T cells

abnormal CD8 positive, alpha-beta intraepithelial T cell morphology ( J:39981 )

• <1% of CD8 T cells found in the intestinal mucosa

abnormal CD8-positive, alpha-beta cytotoxic T cell morphology ( J:39981 )

• <1% of CD8 T cells found

abnormal CD4-positive, alpha-beta T cell physiology ( J:51450 )

• chronically activated CD4+ T cells in the mesenteric lymph node and lamina propria lymphocyte compartments

• increased IFN-gamma production by CD4+ T cells in the mesenteric lymph node and lamina propria lymphocyte compartments of colitic double mutants

digestive/alimentary system

rectal prolapse ( J:51450 )

• several mutants develop rectal prolapse

increased intestinal adenocarcinoma incidence ( J:51450 )

• 29% incidence of adenocarcinomas in the proximal half of the colon

• most mutants with tumors were between 6-8 months old and no tumors seen at 6 months or younger

• tumors are well to moderately differentiated, invading into or through the muscularis propria with a surrounding desmoplastic stromal response

diarrhea ( J:39981 , J:51450 )

• 70% of mice exhibit this by 15 weeks of age, compared to 25% of mice to mice with targeted mutations of just the Il2 gene (J:39981)

colitis ( J:39981 , J:51450 )

• colitis progresses faster in these mice compared to mice with targeted mutations of just the Il2 gene (J:39981)

• 75% have colitis at 6-12 months of age (J:51450)

neoplasm

increased intestinal adenocarcinoma incidence ( J:51450 )

• 29% incidence of adenocarcinomas in the proximal half of the colon

• most mutants with tumors were between 6-8 months old and no tumors seen at 6 months or younger

• tumors are well to moderately differentiated, invading into or through the muscularis propria with a surrounding desmoplastic stromal response

growth/size/body

cachexia ( J:39981 , J:51450 )

• 70% of mice exhibit this by 15 weeks of age, compared to 25% of homozygote mice with targeted mutations of just the Il2 gene (J:39981)

hematopoietic system

abnormal CD4-positive T cell differentiation ( J:39981 )

• T cells isolated from lymph nodes and the colon have markers indicating an activated or memory-like phenotype

abnormal CD8-positive, alpha beta T cell morphology ( J:51450 )

• mesenteric lymph nodes do not contain CD8+ T cells

abnormal CD8 positive, alpha-beta intraepithelial T cell morphology ( J:39981 )

• <1% of CD8 T cells found in the intestinal mucosa

abnormal CD8-positive, alpha-beta cytotoxic T cell morphology ( J:39981 )

• <1% of CD8 T cells found

abnormal CD4-positive, alpha-beta T cell physiology ( J:51450 )

• chronically activated CD4+ T cells in the mesenteric lymph node and lamina propria lymphocyte compartments

• increased IFN-gamma production by CD4+ T cells in the mesenteric lymph node and lamina propria lymphocyte compartments of colitic double mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
inflammatory bowel disease		DOID:0050589	OMIM:PS266600	J:51450

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Cd4^tm1Mak/Cd4^tm1Mak Cd8a^{tm2.1(Cd4)Asin}/Cd8a^{tm2.1(Cd4)Asin}
Genetic Background	involves: 129 * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Cd4^tm1Mak mutation (5 available); any Cd4 mutation (82 available)
Cd8a^{tm2.1(Cd4)Asin} mutation (1 available); any Cd8a mutation (36 available)

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

immune system

abnormal T cell physiology ( J:180236 )

• lack of helper T cell function

• retain cytotoxic T cell functions

hematopoietic system

abnormal T cell physiology ( J:180236 )

• lack of helper T cell function

• retain cytotoxic T cell functions

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Il2^tm1Hor/Il2^tm1Hor
Genetic Background	involves: 129P2/OlaHsd

Find Mice

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

reproductive system

reproductive system phenotype ( J:134589 )

N	• there are no abnormalities of the placenta, the mesometrial triangle, and differentiation of granulated metrial gland cells (aka uterine NK cells) in the uteri of pregnant mice at day 14 of gestation

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Zbtb7b^tm4.1Itan/Zbtb7b^tm4.1Itan
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Zbtb7b^tm4.1Itan mutation (0 available); any Zbtb7b mutation (24 available)

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

immune system

increased CD8-positive, alpha-beta T cell number ( J:193321 )

• mature CD8+ T cells are increased unlike controls

hematopoietic system

increased CD8-positive, alpha-beta T cell number ( J:193321 )

• mature CD8+ T cells are increased unlike controls

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc H2-Ab1^b-tm1Doi/H2-Ab1^b-tm1Doi
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
H2-Ab1^b-tm1Doi mutation (24 available); any H2-Ab1 mutation (81 available)

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

nervous system

abnormal neuron proliferation ( J:170591 )

• decrease in hippocampal neurogenesis

cellular

abnormal neuron proliferation ( J:170591 )

• decrease in hippocampal neurogenesis

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc H2-Ab1^b-tm1Doi/H2-Ab1^b-tm1Doi Lat^tm1.1Mal/Lat^tm1.1Mal
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas

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

immune system

immune system phenotype ( J:77098 )

N	• pathological inflammatory phenotype of Lat^tm1Mal homozygotes is absent in these mice

absent CD4-positive, alpha-beta T cells ( J:77098 )

• in both the thymus and spleen

absent CD8-positive, alpha-beta T cells ( J:77098 )

• in both the thymus and spleen

hematopoietic system

absent CD4-positive, alpha-beta T cells ( J:77098 )

• in both the thymus and spleen

absent CD8-positive, alpha-beta T cells ( J:77098 )

• in both the thymus and spleen

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Lat^tm1.1Mal/Lat^tm1.1Mal
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas

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Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Lat^tm1.1Mal mutation (0 available); any Lat mutation (9 available)

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

immune system

abnormal immune system morphology ( J:77098 )

• same phenotype as Lat^tm1Mal homozygotes

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Irf2^tm1Mak/Irf2^tm1Mak
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Irf2^tm1Mak mutation (1 available); any Irf2 mutation (24 available)

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

integument

abnormal skin condition ( J:66034 )

• no skin symptoms are observed up to 4 months of age compared to Irf2-null mice

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Tbp^tm1.1Ees/Tbp^tm1.1Ees
Genetic Background	involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Tbp^tm1.1Ees mutation (0 available); any Tbp mutation (10 available)

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:77714 )

• 6-fold more embryos survive than in Tbp^tm1.1Ees homozygotes

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Rr381^em2Kap/Rr381^em2Kap
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Rr381^em2Kap mutation (0 available); any Rr381 mutation (0 available)

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

hematopoietic system

absent CD8-positive, alpha-beta T cells ( J:333471 )

immune system

absent CD8-positive, alpha-beta T cells ( J:333471 )

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc H2-D1^b-tm1Bpe/H2-D1^b-tm1Bpe
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
H2-D1^b-tm1Bpe mutation (9 available); any H2-D1 mutation (45 available)

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

immune system

decreased CD8-positive, alpha-beta T cell number ( J:41077 )

• almost no CD8+ T lymphocytes

hematopoietic system

decreased CD8-positive, alpha-beta T cell number ( J:41077 )

• almost no CD8+ T lymphocytes

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Tg(GFAP-B2m)9Mdos/?
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * NOD/ShiLtJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Tg(GFAP-B2m)9Mdos mutation (1 available)

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

immune system

absent CD8-positive, alpha-beta T cells ( J:135214 )

• cells are absent from spleen

decreased susceptibility to autoimmune diabetes ( J:135214 )

• mice resist development of spontaneous diabetes compared to wild-type NOD controls

• when splenocytes from diabetic donors are transferred into lethally-irradiated 8-week old recipients, female mice remain normoglycemic for 14 weeks before developing hyperglycemia/diabetes; kinetics of disease development are much slower than wild-type recipients which maintain normoglycemia for <5 weeks post-transfer

• adoptive transfer of splenocytes from TCR-AI4 transgenic mice does not result in rapid disease development in contrast to wild-type controls

hematopoietic system

absent CD8-positive, alpha-beta T cells ( J:135214 )

• cells are absent from spleen

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Tg(GFAP-B2m)#Mdos/?
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * NOD/ShiLtJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Tg(GFAP-B2m)#Mdos mutation (0 available)

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

immune system

absent CD8-positive, alpha-beta T cells ( J:135214 )

• cells are absent from spleen

decreased susceptibility to autoimmune diabetes ( J:135214 )

• mice resist development of spontaneous diabetes compared to wild-type NOD controls

• adoptive transfer of splenocytes from TCR-AI4 transgenic mice does not result in rapid disease development in contrast to wild-type controls

hematopoietic system

absent CD8-positive, alpha-beta T cells ( J:135214 )

• cells are absent from spleen

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Hfe^tm2Nca/Hfe^tm2Nca
Genetic Background	involves: 129S6/SvEvTac * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Hfe^tm2Nca mutation (1 available); any Hfe mutation (34 available)

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

homeostasis/metabolism

increased liver iron level ( J:62112 )

• increased hepatic iron loading

• greater hepatic iron loading than than the single Hfe^tm2Nca homozygous mutant

liver/biliary system

increased liver iron level ( J:62112 )

• increased hepatic iron loading

• greater hepatic iron loading than than the single Hfe^tm2Nca homozygous mutant

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Ciita^tm1Ccum/Ciita^tm1Ccum
Genetic Background	NOD.Cg-B2m^tm1Unc Ciita^tm1Ccum

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Ciita^tm1Ccum mutation (4 available); any Ciita mutation (45 available)

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

homeostasis/metabolism

abnormal glucose homeostasis ( J:107051 )

• NOD diabetic female mice which receive islet grafts from these classI/II-deficient NOD mice remain euglycemic for up to 147 days, compared to mice receiving islet grafts from NOD or class II-deficient NOD mice which maintain euglycemia for only 6-8 days after transplant; upon removal of the graft-bearing kidney, hyperglycemia returned within 24 hours

hematopoietic system

decreased single-positive T cell number ( J:107051 )

• a significant reduction of CD4+ and CD8+ T cells in the periphery is observed in these animals

immune system

decreased single-positive T cell number ( J:107051 )

• a significant reduction of CD4+ and CD8+ T cells in the periphery is observed in these animals

decreased susceptibility to autoimmune diabetes ( J:107051 )

• mice monitored to 30 weeks of age do not develop type I diabetes (2 consecutive blood glucose readings >16.5nM) while 70% of wild-type NOD mice develop diabetes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	type 1 diabetes mellitus	DOID:9744	OMIM:222100	J:107051

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc H2-Ab1^b-tm1Gru/H2-Ab1^b-tm1Gru Tg(CD2-CD4,HLA-DQA1,HLA-DQB1)1Ell/Tg(CD2-CD4,HLA-DQA1,HLA-DQB1)1Ell
Genetic Background	NOD.Cg-B2m^tm1Unc H2-Ab1^b-tm1Gru Tg(CD2-CD4,HLA-DQA1,HLA-DQB1)1Ell

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
H2-Ab1^b-tm1Gru mutation (11 available); any H2-Ab1 mutation (81 available)
Tg(CD2-CD4,HLA-DQA1,HLA-DQB1)1Ell mutation (2 available)

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

cardiovascular system

cardiovascular system phenotype ( J:113267 )

N	• at 22 weeks, no animals show cardiac enlargement or significant mononuclear cell infiltrates

atrioventricular block ( J:113267 )

prolonged PR interval ( J:113267 )

• only animal developed first degree heart block by 24 weeks of age, and no animals develop complete heart block

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Emv30^b/Emv30^b Prkdc^scid/Prkdc^scid Tg(B2M)55Hpl/? Mcph1^{Tg(HLA-A2.1)1Enge}/?
Genetic Background	NOD.Cg-B2m^tm1Unc Mcph1^{Tg(HLA-A2.1)1Enge} Emv30^b Prkdc^scid Tg(B2M)55Hpl/Dvs

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Emv30^b mutation (3 available); any Emv30 mutation (3 available)
Mcph1^{Tg(HLA-A2.1)1Enge} mutation (7 available); any Mcph1 mutation (58 available)
Prkdc^scid mutation (171 available); any Prkdc mutation (408 available)
Tg(B2M)55Hpl mutation (6 available)

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

immune system

decreased susceptibility to autoimmune diabetes ( J:109851 )

• these mice do not develop diabetes and they provide a host in cell transfer studies for assessing HLA-A2.1 selected T cell pathogenicity

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Tg(B2M)55Hpl/Tg(B2M)55Hpl Mcph1^{Tg(HLA-A2.1)1Enge}/Mcph1^{Tg(HLA-A2.1)1Enge}
Genetic Background	NOD.Cg-B2m^tm1Unc Mcph1^{Tg(HLA-A2.1)1Enge} Tg(B2M)55Hpl

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Mcph1^{Tg(HLA-A2.1)1Enge} mutation (7 available); any Mcph1 mutation (58 available)
Tg(B2M)55Hpl mutation (6 available)

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

immune system

increased susceptibility to autoimmune diabetes ( J:109851 )

• mice develop diabetes at a rate similar to NOD control females, whereas transgenic animals not expressing Tg(HLA-A2.1)1Enge are normally diabetes-resistant

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Prkdc^scid/Prkdc^scid
Genetic Background	NOD.Cg-B2m^tm1Unc Prkdc^scid

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Prkdc^scid mutation (171 available); any Prkdc mutation (408 available)

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

mortality/aging

premature death ( J:102141 )

• mean life span is 191+11 days

immune system

arrested B cell differentiation ( J:102141 )

• absence of mature B cells in spleen, very little serum Ig

arrested T cell differentiation ( J:102141 )

• few CD4+ and CD8+ cells in spleen and no mature T cells

absent lymphocyte ( J:102141 )

• lacks lymphoid cells in the spleen, lymph nodes and thymus

increased macrophage cell number ( J:102141 )

abnormal NK cell physiology ( J:102141 )

• lacks detectable NK cell activity after pretreatment with NK cell inducer

decreased level of surface class I molecules ( J:102141 )

abnormal response to transplant ( J:102141 )

• mouse supports high levels of human CD4+ T cell engraftment in spleen and peripheral blood following human PBMC injection

• minimal engraftment of human CD19+ B cells (less than 2%) following human PBMC injection

• rapid clearance of human IgG

neoplasm

increased T cell derived lymphoma incidence ( J:102141 )

• associated with shortened lifespan

homeostasis/metabolism

increased liver iron level ( J:102141 )

• intracytoplasmic iron deposition in liver

hematopoietic system

arrested B cell differentiation ( J:102141 )

• absence of mature B cells in spleen, very little serum Ig

arrested T cell differentiation ( J:102141 )

• few CD4+ and CD8+ cells in spleen and no mature T cells

absent lymphocyte ( J:102141 )

• lacks lymphoid cells in the spleen, lymph nodes and thymus

increased macrophage cell number ( J:102141 )

abnormal NK cell physiology ( J:102141 )

• lacks detectable NK cell activity after pretreatment with NK cell inducer

liver/biliary system

increased liver iron level ( J:102141 )

• intracytoplasmic iron deposition in liver

endocrine/exocrine glands

increased T cell derived lymphoma incidence ( J:102141 )

• associated with shortened lifespan

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Tg(B2M)55Hpl/0
Genetic Background	NOD.Cg-B2m^tm1Unc Tg(B2M)55Hpl/Dvs

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Tg(B2M)55Hpl mutation (6 available)

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

immune system

immune system phenotype ( J:71837 )

N	• mice exhibit normal class I disparate skin graft rejection and viral infection clearance

decreased susceptibility to autoimmune diabetes ( J:71837 )

• compared to NOD mice

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:71837 )

N	• mice fail to develop insulitis unlike NOD mice

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Tg(HLA-A/H2-D/B2M)1Dvs/0
Genetic Background	NOD.Cg-B2m^tm1Unc Tg(HLA-A/H2-D/B2M)1Dvs

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Tg(HLA-A/H2-D/B2M)1Dvs mutation (7 available)

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

immune system

decreased CD8-positive, alpha-beta T cell number ( J:121685 )

• CD8+ T cells develop, but at significantly reduced numbers (~10%) compared to NOD controls

abnormal cell-mediated immunity ( J:121685 )

• HLA-A2.1-restricted T cells from mice as young as 5 weeks of age respond to IGRP (islet-specific glucose-6-phophatase catalytic subunit-related protein) peptides

abnormal CD8-positive, alpha-beta T cell physiology ( J:121685 )

• islet-infiltrating T cells show different patterns of recognition to various IGRP peptides; peptide 228-236 is immunodominant HLA-A2.1-binding epitope of IGRP in 12-13 week old nondiabetic female mice

abnormal cytotoxic T cell physiology ( J:121685 )

• T cells from islets show HLA-A2-restricted cytotoxicity against human HLA-A2.1-positive human pancreatic islets, as well as mouse islets

increased susceptibility to autoimmune diabetes ( J:121685 )

• 55% of females develop type I diabetes by 30 weeks of age, with significantly accelerated onset compared with non transgenic littermates

hematopoietic system

decreased CD8-positive, alpha-beta T cell number ( J:121685 )

• CD8+ T cells develop, but at significantly reduced numbers (~10%) compared to NOD controls

abnormal CD8-positive, alpha-beta T cell physiology ( J:121685 )

abnormal cytotoxic T cell physiology ( J:121685 )

• T cells from islets show HLA-A2-restricted cytotoxicity against human HLA-A2.1-positive human pancreatic islets, as well as mouse islets

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
type 1 diabetes mellitus		DOID:9744	OMIM:222100	J:121685

Allelic Composition	B2m^tm1Unc/B2m^tm1Unc Tg(TcraAI4)1Dvs/0 Tg(TcrbAI4)1Dvs/0
Genetic Background	NOD.Cg-B2m^tm1Unc Tg(TcraAI4)1Dvs Tg(TcrbAI4)1Dvs

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2m^tm1Unc mutation (38 available); any B2m mutation (122 available)
Tg(TcraAI4)1Dvs mutation (4 available)
Tg(TcrbAI4)1Dvs mutation (4 available)

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

hematopoietic system

abnormal CD8-positive, alpha beta T cell morphology ( J:93553 )

• mice exhibit a complete absence of CD8 T cells expressing the transgenes but transgene-expressing CD4 T cells are present

immune system

abnormal CD8-positive, alpha beta T cell morphology ( J:93553 )

• mice exhibit a complete absence of CD8 T cells expressing the transgenes but transgene-expressing CD4 T cells are present

decreased susceptibility to autoimmune diabetes ( J:93553 )

• B2m-deficient female transgenic NOD mice are completely diabetes resistant compared to transgenic NOD controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	type 1 diabetes mellitus	DOID:9744	OMIM:222100	J:93553

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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