C57BL/6N-Eml1tm1.2Ics/Orl
| Status | Available to order |
| EMMA ID | EM:12914 |
| International strain name | C57BL/6N-Eml1tm1.2Ics/Orl |
| Alternative name | Eml1 knockout |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Eml1tm1.2Ics, |
| Gene/Transgene symbol | Eml1 |
Information from provider
| Provider | Fiona FRANCIS |
| Provider affiliation | Institut du Fer à Moulin, Inserm UMR-S 1270 |
| Genetic information | LoxP sites surrounding exon 8 were introduced into a genomic DNA targeting construct. This vector contained a neo cassette encompassed by two FRT sites upstream of the second loxP site. This targeting construct was introduced by electroporation to allow homologous recombination in B6N embryonic stem (ES) cells. After G418 selection, targeted clones were identified by long-range PCR using external primers and further confirmed by Southern blot with an internal neo probe, as well as 5’ and 3’ external probes. Two positive ES clones were injected into B6N blastocysts. Resulting male chimeras were bred with wild-type B6N females to obtain germline transmission. Selection cassettes were excised by crossing with a Gt(ROSA)26Sor-cre and flpase deleter mouse line (Birling et al. 2012). |
| Phenotypic information | Homozygous:Upon generation of 235 animals with a het-by-het breeding scheme, at 3 weeks of age (weaning) mouse survival was estimated at 79% and 185 animals were genotyped. We obtained 51% het, 29% wild-type and 20% hom, suggesting a possible lethality of a proportion of Eml1 homozygous mice (25% expected). We examined the brain anatomy of Eml1 homozygous mice at 7 weeks of age. Brain anomalies were identified both in males and females. Notably, underneath a homotopic thinner cortex, a massive heterotopia surrounded by fiber tracts formed a double cortex. Some mice also showed an enlargement of the lateral ventricles (hydrocephaly).Heterozygous:We were unable to detect any major differences between the brain anatomy of Eml1 het mice and that of their age-matched controls. |
| Breeding history | Male chimeras were bred with wild-type B6N females to obtain germline transmission. Selection cassettes were excised by crossing with a Gt(ROSA)26Sor-cre and flpase deleter mouse line (Birling et al. 2012) on the same genetic background. Heterozygous mice were produced by either Het x wild-type or Het x Het crosses. |
| References |
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| Homozygous fertile | not known |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
| Animals used for archiving | heterozygous C57BL/6N |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Subcortical band heterotopia / Orphanet_99796
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