IMPC phenotypes (gene matching)
C57BL/6-Sting1em1Psou/Orl
| Status | Available to order |
| EMMA ID | EM:11025 |
| Citation information | RRID:IMSR_EM:11025 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C57BL/6-Sting1em1Psou/Orl |
| Alternative name | Sting V154M |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Sting1em1Psou |
| Gene/Transgene symbol | Sting1 |
Information from provider
| Provider | Pauline Soulas-Sprauel |
| Provider affiliation | CRBS (Centre de Recherche en Biomédecine), Inserm UMR 1109 (Immuno-Rhumatologie Moléculaire, IRM) |
| Additional owner | Dr Frédéric Rieux-Laucat ; Imagine Institute ; Paris ; France |
| Genetic information | Sting V154M mice carry a heterozygous mutation in the Sting1 gene. The mutation is the equivalent of the human p.V155M mutation, associated with STING-associated vasculopathy with onset in infancy (SAVI). |
| Phenotypic information | Homozygous:Heterozygous females are sterile, therefore the phenotype of homozygous mice is not known.Heterozygous:Immunodeficiency characterized by a defect in B, T and NK lymphocyte development, and an increase in monocyte/granuloyte lineages. The size of thymus is reduced. Progressive weight loss. |
| Breeding history | One founder was generated by CRISPR/Cas9, then backcrossed to C57BL/6 for 4 generations. |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | no |
| Immunocompromised | yes |
Information from EMMA
| Archiving centre | CNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France |
| Animals used for archiving | heterozygous C57BL/6 males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Familial Chilblain lupus / Orphanet_481662
- STING-associated vasculopathy with onset in infancy / Orphanet_425120
MGI phenotypes (gene matching)
- abnormal humoral immune response / MGI
- abnormal immune cell physiology / MGI
- abnormal dendritic cell physiology / MGI
- increased susceptibility to viral infection / MGI
- abnormal innate immunity / MGI
- abnormal macrophage physiology / MGI
- no phenotypic analysis / MGI
- abnormal response to infection / MGI
- immune system phenotype / MGI
- decreased circulating interferon-alpha level / MGI
- decreased circulating interferon-beta level / MGI
- decreased circulating interleukin-6 level / MGI
- abnormal plasmacytoid dendritic cell physiology / MGI
- increased susceptibility to viral infection induced morbidity/mortality / MGI
Literature references
- Severe combined immunodeficiency in stimulator of interferon genes (STING) V154M/wild-type mice.;Bouis Delphine, Kirstetter Peggy, Arbogast Florent, Lamon Delphine, Delgado Virginia, Jung Sophie, Ebel Claudine, Jacobs Hugues, Knapp Anne-Marie, Jeremiah Nadia, Belot Alexandre, Martin Thierry, Crow Yanick J, André-Schmutz Isabelle, Korganow Anne-Sophie, Rieux-Laucat Frédéric, Soulas-Sprauel Pauline, ;2019;The Journal of allergy and clinical immunology;143;712-725.e5; 29800647