IMPC phenotypes (gene matching)
C57BL/6N-Eml1tm1.1Ics/Ics
| Status | Available to order |
| EMMA ID | EM:16211 |
| Citation information | RRID:IMSR_EM:16211 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-Eml1tm1.1Ics/Ics |
| Alternative name | Eml1tm1.1Ics/Ics |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Eml1tm1.1Ics |
| Gene/Transgene symbol | Eml1 |
Information from provider
| Provider | Fiona Francis |
| Provider affiliation | Centre de Neuroscience Sorbonne Université (NeuroSU), Institut de Biologie Paris Seine (IBPS), Sorbonne Université |
| Genetic information | Exon 8 (ENSMUSE00001217594) (GRCm39,Eml1-201) was flanked by loxP sites. A neomycin selection cassette flanked by FRT sites was inserted upstream of the second loxP site; flp-mediated recombination removed the selection marker leading to a conditional-ready allele |
| Phenotypic information | Homozygous:N/AHeterozygous:N/A |
| Breeding history | 100% C57BL/6N (C57BL/6NCrl 50% C57BL/6NTac 50%) |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | yes |
| 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
- Subcortical band heterotopia / Orphanet_99796
MGI phenotypes (gene matching)
- myoclonus / MGI
- delayed hair appearance / MGI
- abnormal cranium morphology / MGI
- thickened cerebral cortex / MGI
- decreased body weight / MGI
- decreased body size / MGI
- delayed eyelid opening / MGI
- abnormal locomotor behavior / MGI
- hypoactivity / MGI
- seizures / MGI
- altered righting response / MGI
- increased susceptibility to pharmacologically induced seizures / MGI
- abnormal locomotor activation / MGI
- nervous system phenotype / MGI
- bradykinesia / MGI
- abnormal cortical intermediate zone morphology / MGI
- enlarged brain ventricles / MGI
- ectopic cortical neuron / MGI
- impaired spatial learning / MGI
- brain atrophy / MGI
Literature references
- The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia.;Collins Stephan C, Uzquiano Ana, Selloum Mohammed, Wendling Olivia, Gaborit Marion, Osipenko Maria, Birling Marie-Christine, Yalcin Binnaz, Francis Fiona, ;2019;Journal of anatomy;235;637-650; 31173351