| Status | Available to order |
| EMMA ID | EM:02174 |
| International strain name | C57BL/6JSfdAnu-Card11unm/ApbH |
| Alternative name | Unmodulated, C57BL/6Apb-Card11 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Card11unm, |
| Gene/Transgene symbol | Card11 |
| Provider | Chris Goodnow |
| Provider affiliation | The Australian National University |
| Genetic information | This strain carries a T to A (L305Q) point mutation. Functional assays involving serological tests and two-step protein immunization have identified strains with defects in autoimmunity, changes in T cell help for antibody, Th1/Th2 antibody polarization, humoral memory and affinity maturation, and T cell-independent antibody responses. This led to the discovery of a key regulator of antibody responses and T cell costimulation, Card11/Carma1, where a single amino acid substitution revealed separate roles in lymphocyte activation and in immunoregulation. In the missense strain, defects in the latter lead to atopic dermatitis / hyper-IgE disease, in contrast to knockout mice analysed in parallel which only show the lymphocyte activation roles of this key signal-scaffolding molecule. |
| Phenotypic information | This strain carries B and T cell response defects; atopic dermatitis; high IgM on IgD+ cells, also slightly increased CD21; reduced peritoneal B1 cells; severely affected immunity mediated by Th1 cells, selective defects in BCR and TCR signalling to JNK and NFkB. The mice make poor antibody responses, and as they age develop atopic dermatitis and hyper-IgE, with red itchy ears weepy eyes, progressing to badly eroded skin from itching, at which point they need to be put down. |
| References |
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| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Orphanet associated rare diseases, based on orthologous gene matching
