IMPC phenotypes (gene matching)
C57BL/6N-Med23tm2.1Ics/Ics
| Status | Available to order |
| EMMA ID | EM:15612 |
| Citation information | RRID:IMSR_EM:15612 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/6N-Med23tm2.1Ics/Ics |
| Alternative name | Med23tm2.1(R614Q)Ics (G3) |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Med23tm2.1Ics |
| Gene/Transgene symbol | Med23 |
Information from provider
| Provider | ICS, Institut Clinique de la Souris |
| Provider affiliation | ICS, Institut Clinique de la Souris |
| Genetic information | This line was obtained by modification of S3 in house-derived C57BL/6N embryonic stem cells.The R614Q point mutation was inserted in Med23. The pPGK-Neo selection cassette was autoexcised during the chimera breeding stage as this cassette also contains a protamine-cre recombinase transgene. The line was generated on a pure C57BL/6N inbred genetic background. For detailed information on the genetic description of this strain, please have a look at this report. |
| Phenotypic information | Homozygous:LethalityHeterozygous:DOI: See 10.3390/biomedicines10123148 |
| Breeding history | Inbred C57BL/6N |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | ICS, Institut Clinique de la Souris, Illkirch-Graffenstaden, France |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Autosomal recessive non-syndromic intellectual disability / Orphanet_88616
Literature references
- Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models.;Meziane Hamid, Birling Marie-Christine, Wendling Olivia, Leblanc Sophie, Dubos Aline, Selloum Mohammed, Pavlovic Guillaume, Sorg Tania, Kalscheuer Vera M, Billuart Pierre, Laumonnier Frédéric, Chelly Jamel, van Bokhoven Hans, Herault Yann, ;2022;Biomedicines;10;; 36551904