Phenotypes associated with this allele

• Allele Symbol: Sit1^tm1Lsmn
• Allele Name: targeted mutation 1, Luca Simeoni
• Allele ID: MGI:3588572
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sit1^tm1Lsmn/Sit1^tm1Lsmn	B6.Cg-Sit1^tm1Lsmn	MGI:3589734
cx2	Sit1^tm1Lsmn/Sit1^tm1Lsmn Tg(TcrLCMV)327Sdz/0	involves: C57BL/6	MGI:3589738
cx3	Sit1^tm1Lsmn/Sit1^tm1Lsmn Tg(TcraH-Y,TcrbH-Y)71Vbo/?	involves: C57BL/6 * C57BL/6J * DBA/2J	MGI:3589737

Genotype
MGI:3589734

hm1

• Allelic Composition: Sit1^tm1Lsmn/Sit1^tm1Lsmn
• Genetic Background: B6.Cg-Sit1^tm1Lsmn

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

immune system

increased T cell proliferation ( J:100408 )

• 50% enhancement in proliferation of T cells upon CD3 stimulation

thymus hyperplasia ( J:100408 )

• moderate increase in thymus cellularity

abnormal T cell differentiation ( J:100408 )

• altered T cell development, however B cell development is normal

• decrease of thymocytes that express high levels of TCR

abnormal T-helper 1 cell differentiation ( J:100408 )

• the peripheral T-cell repertoire is skewed towards the T-helper 1 lineage

increased double-positive T cell number ( J:100408 )

• 40% increase in the number of double-positive (DP) immature thymocytes

• DP thymocytes express higher levels of CD5 and CD69

abnormal lymphocyte cell number ( J:100408 )

• reduction in the number of alpha betaTCR+ lymphocytes in both the CD4 and CD8 subpopulations

decreased CD4-positive, alpha-beta T cell number ( J:100408 )

• reduction in CD4+ mature single-positive thymocytes

decreased CD8-positive, alpha-beta T cell number ( J:100408 )

• reduction in CD8+ mature single positive thymocytes

increased mature gamma-delta T cell number ( J:100408 )

• increase in both the distribution and absolute numbers of gamma deltaTCR+ lymphocytes in lymph nodes, spleen, Peyer's patches, blood and bone marrow

lymph node hypoplasia ( J:100408 )

• 50% decrease in total cellularity of the superficial lymph node

• 50% decrease in total cellularity of the mesenteric lymph node

abnormal cytokine secretion ( J:100408 )

increased interferon-gamma secretion ( J:100408 )

• T cells produce higher amounts of gamma interferon after CD3 stimulation

increased interleukin-2 secretion ( J:100408 )

• T cells produce higher amounts of interleukin-2 after CD3 stimulation

increased tumor necrosis factor secretion ( J:100408 )

• T cells produce higher amounts of TNF alpha after CD3 stimulation

increased susceptibility to experimental autoimmune encephalomyelitis ( J:100408 )

• increased susceptibility to develop severe experimental autoimmune encephalomyelitis

hematopoietic system

increased T cell proliferation ( J:100408 )

• 50% enhancement in proliferation of T cells upon CD3 stimulation

thymus hyperplasia ( J:100408 )

• moderate increase in thymus cellularity

abnormal T cell differentiation ( J:100408 )

• altered T cell development, however B cell development is normal

• decrease of thymocytes that express high levels of TCR

abnormal T-helper 1 cell differentiation ( J:100408 )

• the peripheral T-cell repertoire is skewed towards the T-helper 1 lineage

increased double-positive T cell number ( J:100408 )

• 40% increase in the number of double-positive (DP) immature thymocytes

• DP thymocytes express higher levels of CD5 and CD69

abnormal lymphocyte cell number ( J:100408 )

• reduction in the number of alpha betaTCR+ lymphocytes in both the CD4 and CD8 subpopulations

decreased CD4-positive, alpha-beta T cell number ( J:100408 )

• reduction in CD4+ mature single-positive thymocytes

decreased CD8-positive, alpha-beta T cell number ( J:100408 )

• reduction in CD8+ mature single positive thymocytes

increased mature gamma-delta T cell number ( J:100408 )

• increase in both the distribution and absolute numbers of gamma deltaTCR+ lymphocytes in lymph nodes, spleen, Peyer's patches, blood and bone marrow

endocrine/exocrine glands

thymus hyperplasia ( J:100408 )

• moderate increase in thymus cellularity

cellular

increased T cell proliferation ( J:100408 )

• 50% enhancement in proliferation of T cells upon CD3 stimulation

Genotype
MGI:3589738

cx2

• Allelic Composition: Sit1^tm1Lsmn/Sit1^tm1Lsmn; Tg(TcrLCMV)327Sdz/0
• Genetic Background: involves: C57BL/6

immune system

thymus hypoplasia ( J:100408 )

• dramatic reduction of thymic cellularity

abnormal T cell selection ( J:100408 )

• altered thymic selection process

abnormal positive T cell selection ( J:100408 )

• enhanced positive selection of T cells and partial conversion of positive selection to negative selection

hematopoietic system

thymus hypoplasia ( J:100408 )

• dramatic reduction of thymic cellularity

abnormal T cell selection ( J:100408 )

• altered thymic selection process

abnormal positive T cell selection ( J:100408 )

• enhanced positive selection of T cells and partial conversion of positive selection to negative selection

endocrine/exocrine glands

thymus hypoplasia ( J:100408 )

• dramatic reduction of thymic cellularity

Genotype
MGI:3589737

cx3

• Allelic Composition: Sit1^tm1Lsmn/Sit1^tm1Lsmn; Tg(TcraH-Y,TcrbH-Y)71Vbo/?
• Genetic Background: involves: C57BL/6 * C57BL/6J * DBA/2J

immune system

abnormal T cell differentiation ( J:100408 )

• more efficient suppression of the rearrangement of the endogenous TCR-alpha chain

abnormal positive T cell selection ( J:100408 )

• enhanced positive selection of T cells and partial conversion of positive selection to negative selection

abnormal CD8-positive, alpha beta T cell morphology ( J:100408 )

• CD8 single positive cells are more mature

hematopoietic system

abnormal T cell differentiation ( J:100408 )

• more efficient suppression of the rearrangement of the endogenous TCR-alpha chain

abnormal positive T cell selection ( J:100408 )

• enhanced positive selection of T cells and partial conversion of positive selection to negative selection

abnormal CD8-positive, alpha beta T cell morphology ( J:100408 )

• CD8 single positive cells are more mature