Phenotypes Associated with This Genotype

Genotype
MGI:6302788

• Allelic Composition: Sting1^em1Jmin/Sting1⁺
• Genetic Background: involves: C57BL/6N

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

growth/size/body

enlarged spleen ( J:251372 )

hematopoietic system

decreased single-positive T cell number ( J:251372 )

• spleens show reduced numbers of T cells, which is more severe for CD8+ T cells than for CD4+ T cells, indicating T cell cytopenia

increased myeloid cell number ( J:251372 )

• spleens show an expansion of Ly6G+ myeloid cells and immature myeloid cells

abnormal spleen morphology ( J:251372 )

• abnormal spleen architecture

enlarged spleen ( J:251372 )

increased IgM level ( J:251372 )

• 3 of 5 mice produce higher levels of IgM but not IgG autoantibodies

homeostasis/metabolism

abnormal lung thrombosis ( J:251372 )

• lungs show organized thrombosis in pulmonary blood vessels

pleural effusion ( J:251372 )

abnormal cytokine level ( J:251372 )

• 4-6 month old mice exhibit elevated levels of multiple cytokines and chemokines, including TNF, IL-17a, IL-13, G-CSF, MIP-1alpha, MIP-1beta, MCP-1, and IL-10

increased circulating interleukin-10 level ( J:251372 )

• in 4-6 month old mice

increased circulating interleukin-13 level ( J:251372 )

• in 4-6 month old mice

increased circulating tumor necrosis factor level ( J:251372 )

• in 4-6 month old mice

immune system

decreased single-positive T cell number ( J:251372 )

• spleens show reduced numbers of T cells, which is more severe for CD8+ T cells than for CD4+ T cells, indicating T cell cytopenia

abnormal spleen morphology ( J:251372 )

• abnormal spleen architecture

enlarged spleen ( J:251372 )

increased IgM level ( J:251372 )

• 3 of 5 mice produce higher levels of IgM but not IgG autoantibodies

abnormal cytokine level ( J:251372 )

• 4-6 month old mice exhibit elevated levels of multiple cytokines and chemokines, including TNF, IL-17a, IL-13, G-CSF, MIP-1alpha, MIP-1beta, MCP-1, and IL-10

increased circulating interleukin-10 level ( J:251372 )

• in 4-6 month old mice

increased circulating interleukin-13 level ( J:251372 )

• in 4-6 month old mice

increased circulating tumor necrosis factor level ( J:251372 )

• in 4-6 month old mice

lung inflammation ( J:251372 )

• lungs show chronic perivascular inflammation with heterogeneous immune cell infiltration

• immune cells consist predominantly of CD19+ B cells and CD11b+ myeloid cells, with smaller numbers of CD4+ and CD8+ T cells

• however, pulmonary fibrosis is not seen

integument

skin lesions ( J:251372 )

• skin lesions show mixed immune cell infiltration, ulceration, and scarring

spontaneous skin ulceration ( J:251372 )

• ulcerative skin lesions of the extremities are seen in 5 mice and on the head in 1 mouse

respiratory system

pleural effusion ( J:251372 )

lung inflammation ( J:251372 )

• lungs show chronic perivascular inflammation with heterogeneous immune cell infiltration

• immune cells consist predominantly of CD19+ B cells and CD11b+ myeloid cells, with smaller numbers of CD4+ and CD8+ T cells

• however, pulmonary fibrosis is not seen

respiratory distress ( J:251372 )

• severe respiratory distress occurs frequently

• severe respiratory distress is sometimes seen during late pregnancy in dams that are unable to survive labor

renal/urinary system

renal/urinary system phenotype ( J:251372 )

N • mice show no evidence of inflamed or abnormal glomeruli

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
STING-associated vasculopathy with onset in infancy		DOID:0111457	OMIM:615934	J:251372