Phenotypes associated with this allele

• Allele Symbol: Sting1^em1Jmin
• Allele Name: endonuclease-mediated mutation 1, Jonathan Miner
• Allele ID: MGI:6287305
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sting1^em1Jmin/Sting1^em1Jmin	involves: C57BL/6N	MGI:6302787
ht2	Sting1^em1Jmin/Sting1^+	involves: C57BL/6N	MGI:6302788
cx3	Irf3^tm1Ttg/Irf3^tm1Ttg Sting1^em1Jmin/Sting1^em1Jmin	involves: 129S/SvEv * C57BL/6N	MGI:6302792

Genotype
MGI:6302787

hm1

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

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

mortality/aging

prenatal lethality, complete penetrance ( J:251372 )

• mice do not survive gestation

Genotype
MGI:6302788

ht2

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

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

Genotype
MGI:6302792

cx3

• Allelic Composition: Irf3^tm1Ttg/Irf3^tm1Ttg; Sting1^em1Jmin/Sting1^em1Jmin
• Genetic Background: involves: 129S/SvEv * C57BL/6N

hematopoietic system

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

• the percent and absolute number of CD8+ T cells in spleen is reduced to a similar level as in single Sting1^em1Jmin homozygotes

increased myeloid cell number ( J:251372 )

• spleen shows a similar increase in the number of Ly6G+ and Ly6C+ myeloid cell populations as in single Sting1^em1Jmin homozygotes

immune system

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

• the percent and absolute number of CD8+ T cells in spleen is reduced to a similar level as in single Sting1^em1Jmin homozygotes

lung inflammation ( J:251372 )

• mice exhibit a similar level of perivascular immune cell infiltration as single Sting1^em1Jmin homozygotes

respiratory system

lung inflammation ( J:251372 )

• mice exhibit a similar level of perivascular immune cell infiltration as single Sting1^em1Jmin homozygotes