IMPC phenotypes (gene matching)
C57BL/6N-Dync1h1tm1.1Ics/Ics
| Status | Available to order |
| EMMA ID | EM:15626 |
| Citation information | RRID:IMSR_EM:15626 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-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
MGI phenotypes (gene matching)
- muscle spasm / MGI
- paralysis / MGI
- motor neuron degeneration / MGI
- decreased motor neuron number / MGI
- abnormal motor neuron innervation pattern / MGI
- abnormal neuromuscular synapse morphology / MGI
- impaired coordination / MGI
- absent suckling reflex / MGI
- aphagia / MGI
- limb grasping / MGI
- abnormal grip strength / MGI
- impaired limb coordination / MGI
- abnormal postnatal growth / MGI
- male infertility / MGI
- neuronal intranuclear inclusions / MGI
- abnormal axonal transport / MGI
- decreased spinal cord ventral horn cell number / MGI
- muscle phenotype / MGI
- jerky movement / MGI
- increased susceptibility to weight gain / MGI
- abnormal resting posture / MGI
- decreased grip strength / MGI
- neonatal lethality, complete penetrance / MGI
- embryonic lethality between implantation and somite formation, complete penetrance / MGI
- embryonic lethality between somite formation and embryo turning, complete penetrance / MGI
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