Phenotypes associated with this allele

• Allele Symbol: Unc93b1^tm1.1Kmiy
• Allele Name: targeted mutation 1.1, Kensuke Miyake
• Allele ID: MGI:5140947
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Unc93b1^tm1.1Kmiy/Unc93b1^tm1.1Kmiy	involves: 129P2/OlaHsd * C57BL/6	MGI:5140969
cx2	Ighm^tm1Cgn/Ighm^tm1Cgn Unc93b1^tm1.1Kmiy/Unc93b1^tm1.1Kmiy	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6	MGI:5140974
cx3	Rag2^tm1Fwa/Rag2^tm1Fwa Unc93b1^tm1.1Kmiy/Unc93b1^tm1.1Kmiy	involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6	MGI:5140973
cx4	Tlr7^tm1Aki/Tlr7^tm1Aki Unc93b1^tm1.1Kmiy/Unc93b1^tm1.1Kmiy	involves: 129P2/OlaHsd * C57BL/6	MGI:5140970
cx5	Tlr9^tm1Aki/Tlr9^tm1Aki Unc93b1^tm1.1Kmiy/Unc93b1^tm1.1Kmiy	involves: 129P2/OlaHsd * C57BL/6	MGI:5140971
cx6	Myd88^tm1Aki/Myd88^tm1Aki Unc93b1^tm1.1Kmiy/Unc93b1^tm1.1Kmiy	involves: 129P2/OlaHsd * C57BL/6	MGI:5140972

Genotype
MGI:5140969

hm1

• Allelic Composition: Unc93b1^tm1.1Kmiy/Unc93b1^tm1.1Kmiy
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

cellular

decreased B cell proliferation ( J:174308 )

• upon CpG-B-stimulation

increased B cell proliferation ( J:174308 )

• upon imiquimod-stimulation

• in response to anti-IgM

mortality/aging

premature death ( J:174308 )

• 50% of mice die by 30 weeks of age

immune system

decreased B cell proliferation ( J:174308 )

• upon CpG-B-stimulation

increased B cell proliferation ( J:174308 )

• upon imiquimod-stimulation

• in response to anti-IgM

enlarged spleen ( J:174308 )

• progressive in moribund mice

increased spleen weight ( J:174308 )

• in moribund mice

abnormal T-helper 1 cell differentiation ( J:174308 )

• T cells exhibit marked differentiation into Th1 or Th7 cells compared to in wild-type mice

abnormal T-helper 17 cell differentiation ( J:174308 )

• T cells exhibit marked differentiation into Th1 or Th7 cells compared to in wild-type mice

decreased marginal zone B cell number ( J:174308 )

• reduced percentage in the spleen

increased B cell number ( J:174308 )

• increased percentage in the lymph nodes

increased T-helper 1 cell number ( J:174308 )

• in the lymph nodes

increased T-helper 17 cell number ( J:174308 )

• in the lymph nodes

increased memory T cell number ( J:174308 )

increased CD4-positive, alpha-beta memory T cell number ( J:174308 )

increased IgG2a level ( J:174308 )

increased IgG2b level ( J:174308 )

abnormal cytokine secretion ( J:174308 )

decreased interferon-alpha secretion ( J:174308 )

• in plasmocytoid dendritic cells stimulated with CpG-A to stimulate a TLR9 response

increased interferon-alpha secretion ( J:174308 )

• in plasmocytoid dendritic cells stimulated with imiquimod to stimulate a TLR7 response

decreased interleukin-12b secretion ( J:174308 )

• in dendritic cells stimulated with CpG-B to stimulate a TLR9 response

increased interleukin-12b secretion ( J:174308 )

• in dendritic cells stimulated with loxoribine to stimulate a TLR7 response

decreased tumor necrosis factor secretion ( J:174308 )

• in bone marrow macrophages stimulated with CpG-B to stimulate a TLR9 response

increased tumor necrosis factor secretion ( J:174308 )

• in bone marrow macrophages stimulated with loxoribine to stimulate a TLR7 response

increased autoantibody level ( J:174308 )

• mice exhibit increased anti-nuclear (ANA), anti-mitochondrial (AMA), and anti-smooth muscle (ASMA) antibodies compared with wild-type mice

increased anti-nuclear antigen antibody level ( J:174308 )

liver inflammation ( J:174308 )

• CD11b+ CD11c^hiGr1^int cells infiltrate in moribund mice

glomerulonephritis ( J:174308 )

• without decreased kidney function in moribund mice

growth/size/body

enlarged spleen ( J:174308 )

• progressive in moribund mice

increased spleen weight ( J:174308 )

• in moribund mice

liver/biliary system

liver inflammation ( J:174308 )

• CD11b+ CD11c^hiGr1^int cells infiltrate in moribund mice

abnormal liver morphology ( J:174308 )

• moribund mice exhibit liver damage with pale spots unlike wild-type mice

• however, mice do not exhibit portal fibrosis indicative of chronic liver damage

multifocal hepatic necrosis ( J:174308 )

• multilobular in moribund mice

liver failure ( J:174308 )

• in moribund mice

homeostasis/metabolism

increased circulating creatinine level ( J:174308 )

• weakly in moribund mice

increased circulating bilirubin level ( J:174308 )

• in moribund mice

increased circulating alanine transaminase level ( J:174308 )

• in moribund mice

increased circulating aspartate transaminase level ( J:174308 )

• in moribund mice

increased circulating lactate dehydrogenase level ( J:174308 )

• in moribund mice

skeleton

abnormal bone marrow morphology ( J:174308 )

• mice exhibit increased erythrocyte phagocytosis in the bone marrow cells and peripheral blood compared with wild-type mice

renal/urinary system

glomerulonephritis ( J:174308 )

• without decreased kidney function in moribund mice

hematopoietic system

decreased B cell proliferation ( J:174308 )

• upon CpG-B-stimulation

increased B cell proliferation ( J:174308 )

• upon imiquimod-stimulation

• in response to anti-IgM

enlarged spleen ( J:174308 )

• progressive in moribund mice

increased spleen weight ( J:174308 )

• in moribund mice

abnormal T-helper 1 cell differentiation ( J:174308 )

• T cells exhibit marked differentiation into Th1 or Th7 cells compared to in wild-type mice

abnormal T-helper 17 cell differentiation ( J:174308 )

• T cells exhibit marked differentiation into Th1 or Th7 cells compared to in wild-type mice

anemia ( J:174308 )

• in moribund mice

increased erythroblast number ( J:174308 )

• in the blood of moribund mice

thrombocytopenia ( J:174308 )

• severe in moribund and nonmoribund mice

decreased marginal zone B cell number ( J:174308 )

• reduced percentage in the spleen

increased B cell number ( J:174308 )

• increased percentage in the lymph nodes

increased T-helper 1 cell number ( J:174308 )

• in the lymph nodes

increased T-helper 17 cell number ( J:174308 )

• in the lymph nodes

increased memory T cell number ( J:174308 )

increased CD4-positive, alpha-beta memory T cell number ( J:174308 )

abnormal erythrocyte physiology ( J:174308 )

• mice exhibit increased erythrocyte phagocytosis in the bone marrow cells and peripheral blood compared with wild-type mice

increased IgG2a level ( J:174308 )

increased IgG2b level ( J:174308 )

Genotype
MGI:5140974

cx2

• Allelic Composition: Ighm^tm1Cgn/Ighm^tm1Cgn; Unc93b1^tm1.1Kmiy/Unc93b1^tm1.1Kmiy
• Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

mortality/aging

mortality/aging ( J:174308 )

N • unlike Unc93b1^tm1.1Kmiy homozygotes, mice do not exhibit premature death

hematopoietic system

hematopoietic system phenotype ( J:174308 )

N • unlike in Unc93b1^tm1.1Kmiy homozygotes, spleen size is normal

N • unlike in Unc93b1^tm1.1Kmiy homozygotes, mice do not exhibit differentiation towards memory CD4+ T cells

thrombocytopenia ( J:174308 )

• not as severe as in Unc93b1^tm1.1Kmiy homozygotes

Genotype
MGI:5140973

cx3

• Allelic Composition: Rag2^tm1Fwa/Rag2^tm1Fwa; Unc93b1^tm1.1Kmiy/Unc93b1^tm1.1Kmiy
• Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

mortality/aging

mortality/aging ( J:174308 )

N • unlike Unc93b1^tm1.1Kmiy homozygotes, mice do not exhibit premature death

hematopoietic system

hematopoietic system phenotype ( J:174308 )

N • platelet counts are the same as in Rag2^tm1Fwa homozygotes

N • unlike in Unc93b1^tm1.1Kmiy homozygotes, spleen size is normal

Genotype
MGI:5140970

cx4

• Allelic Composition: Tlr7^tm1Aki/Tlr7^tm1Aki; Unc93b1^tm1.1Kmiy/Unc93b1^tm1.1Kmiy
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

mortality/aging ( J:174308 )

♀N • unlike Unc93b1^tm1.1Kmiy homozygotes, mice do not exhibit premature death

hematopoietic system

hematopoietic system phenotype ( J:174308 )

♀N • unlike Unc93b1^tm1.1Kmiy homozygotes, mice do not exhibit expansion of erythroblasts and myeloid cells in the spleen

♀N • unlike Unc93b1^tm1.1Kmiy homozygotes, mice exhibit normal platelet counts, memory T cells, and B cell maturation and expansion

Genotype
MGI:5140971

cx5

• Allelic Composition: Tlr9^tm1Aki/Tlr9^tm1Aki; Unc93b1^tm1.1Kmiy/Unc93b1^tm1.1Kmiy
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

premature death ( J:174308 )

• as in Unc93b1^tm1.1Kmiy homozygotes

hematopoietic system

thrombocytopenia ( J:174308 )

• as in Unc93b1^tm1.1Kmiy homozygotes

Genotype
MGI:5140972

cx6

• Allelic Composition: Myd88^tm1Aki/Myd88^tm1Aki; Unc93b1^tm1.1Kmiy/Unc93b1^tm1.1Kmiy
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

hematopoietic system

hematopoietic system phenotype ( J:174308 )

N • platelet counts are normal