C57BL/6N-Dync1h1tm1.1Ics/Ics
Status | Available to order |
EMMA ID | EM:15626 |
International strain name | C57BL/6N-Dync1h1tm1.1Ics/Ics |
Alternative name | Dync1h1tm1.1(K3334N)Ics (G4564) |
Strain type | Targeted Mutant Strains : Point mutation |
Allele/Transgene symbol | Dync1h1tm1.1Ics, |
Gene/Transgene symbol | Dync1h1 |
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 TB1 in house derived C57BL/6N embryonic stem cells. Exon 52 (ENSMUSE00000116238) was floxed and a point mutation (AAG to AAT) corresponding to the K3334N mutation was introduced in this exon. The flipped NeoR cassette was removed by breeding the male chimeras with flp recombinase deleter females. 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:lethalHeterozygous:DOI: 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 dominant non-syndromic intellectual disability / Orphanet_178469
- DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy / Orphanet_209341
- Autosomal dominant Charcot-Marie-Tooth disease type 2O / Orphanet_284232
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
Information on how we integrate external resources can be found here
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).