MGI phenotypes (allele matching)
B6129-Dclre1ctm1.1Jpdv/Orl
| Status | Available to order |
| EMMA ID | EM:01155 |
| Citation information | RRID:IMSR_EM:01155 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 | B6129-Dclre1ctm1.1Jpdv/Orl |
| Alternative name | Art KO |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Dclre1ctm1.1Jpdv |
| Gene/Transgene symbol | Dclre1c |
Information from provider
| Provider | Jean-Pierre De Villartay |
| Provider affiliation | CRBS (Centre de Recherche en Biomédecine), Inserm UMR 1109 (Immuno-Rhumatologie Moléculaire, IRM) |
| Genetic information | Knock-out allele of the DNA cross-link repair 1C (Dclre1c or Artemis) gene. A loxP site was inserted upstream of exon 12 and a floxed neo cassette was inserted downstream of exon 12 (LoxP/Exon12/LoxP/Neo/LoxP). Transient cre recombinase expression in ES cells resulted in removal of exon 12 and the neo cassette. The expression of a truncated transcript was confirmed by RT-PCR analysis. |
| Phenotypic information | Immunodeficient: absence of T and B lymphocytes. |
| References |
|
Information from EMMA
| Archiving centre | CNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Severe combined immunodeficiency due to DCLRE1C deficiency / Orphanet_275
- Omenn syndrome / Orphanet_39041
MGI phenotypes (gene matching)
- increased neutrophil cell number / MGI
- small spleen / MGI
- spleen hypoplasia / MGI
- decreased thymocyte number / MGI
- absent CD8-positive, alpha-beta T cells / MGI
- increased body weight / MGI
- decreased body weight / MGI
- decreased body size / MGI
- arrested B cell differentiation / MGI
- decreased IgM level / MGI
- arrested T cell differentiation / MGI
- increased cellular sensitivity to gamma-irradiation / MGI
- abnormal B cell differentiation / MGI
- small lymph nodes / MGI
- abnormal lymph node morphology / MGI
- abnormal leukocyte physiology / MGI
- absent CD4-positive, alpha beta T cells / MGI
- induced chromosome breakage / MGI
- increased cellular sensitivity to ionizing radiation / MGI
- decreased thymus weight / MGI
- decreased B-1 B cell number / MGI
- decreased lymphocyte cell number / MGI
- decreased B cell number / MGI
- decreased T cell number / MGI
- decreased double-positive T cell number / MGI
- decreased B cell proliferation / MGI
- decreased T cell proliferation / MGI
- immune system phenotype / MGI
- increased macrophage cell number / MGI
- abnormal cell physiology / MGI
- decreased systemic arterial systolic blood pressure / MGI
- decreased NK T cell number / MGI
- increased NK cell number / MGI
- absent T cells / MGI
- absent B cells / MGI
- decreased CD4-positive, alpha beta T cell number / MGI
- decreased CD8-positive, alpha-beta T cell number / MGI
- decreased single-positive T cell number / MGI
- increased pro-B cell number / MGI
- decreased pre-B cell number / MGI
- decreased mature B cell number / MGI
- absent immature B cells / MGI
- abnormal mononuclear cell morphology / MGI
- abnormal spleen B cell follicle morphology / MGI
- abnormal T cell receptor V(D)J recombination / MGI
- abnormal T cell receptor beta chain V(D)J recombination / MGI
- abnormal immunoglobulin heavy chain V(D)J recombination / MGI
- chromosomal instability / MGI
- decreased splenocyte number / MGI
- decreased DN1 thymic pro-T cell number / MGI
- decreased DN4 thymocyte number / MGI
- absent thymus cortex / MGI
- increased central memory CD4-positive, alpha-beta T cell number / MGI
- increased effector memory CD4-positive, alpha-beta T cell number / MGI
- increased central memory CD8 positive, alpha-beta T cell number / MGI
- increased effector memory CD8-positive, alpha-beta T cell number / MGI
- decreased CD8-positive, naive alpha-beta T cell number / MGI
- decreased response to antigen / MGI
- impaired humoral immune response / MGI
Literature references
- Distinct effects of DNA-PKcs and Artemis inactivation on signal joint formation in vivo.;Touvrey Cédric, Couedel Chrystelle, Soulas Pauline, Couderc Rachel, Jasin Maria, de Villartay Jean-Pierre, Marche Patrice N, Jouvin-Marche Evelyne, Candéias Serge M, ;2008;Molecular immunology;45;3383-91; 18501428
- Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells.;Benjelloun Fatine, Garrigue Alexandrine, Demerens-de Chappedelaine Corinne, Soulas-Sprauel Pauline, Malassis-Séris Michele, Stockholm Daniel, Hauer Julia, Blondeau Johanna, Rivière Julie, Lim Annick, Le Lorc'h Marc, Romana Serge, Brousse Nicole, Pâques Frederique, Galy Anne, Charneau Pierre, Fischer Alain, de Villartay Jean-Pierre, Cavazzana-Calvo Marina, ;2008;Molecular therapy : the journal of the American Society of Gene Therapy;16;1490-9; 18560421