C57BL/6N-Med23tm2.1Ics/Ics
Status | Available to order |
EMMA ID | EM:15612 |
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 BD10 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 |
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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
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