IMPC phenotypes (gene matching)
129S2.Cg-Eml1heco/Orl
| Status | Available to order |
| EMMA ID | EM:11018 |
| International strain name | 129S2.Cg-Eml1heco/Orl |
| Alternative name | Heterotopic cortex HeCo-Sv129 |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Eml1heco |
| Gene/Transgene symbol | Eml1 |
Information from provider
| Provider | Fiona Francis |
| Provider affiliation | Inserm UMRS 839 |
| Additional owner | Alexandre Croquelois, Department of Cell Biology and Morphology, Lausanne, Switzerland |
| Genetic information | Spontaneous mutation (autosomal recessive) due to an insertion of a retrotransposon in the Eml1 gene (intron 22), resulting in an absence of full length transcripts of the gene. |
| Phenotypic information | Homozygous:Mice are viable and fertile. They have a cerebral cortical malformation, specifically a subcortical heterotopic band. This is a rare and precious phenotype.Heterozygous:Heterozygous mice are unaffected. |
| Breeding history | The mutation arose spontaneously at the University of Lausanne on the NOR-CD1 background and was identified by Alexandre Croquelois. My group in Paris transferred these mice onto the 129S2/SvPas background by backcrossing, using pure mice obtained from Charles River Labs. Alexandre Croquelois is in complete agreement for the freezing of this mouse line in the EMMA archive (for cryoconserving and archiving at the CDTA Orléans, France). |
| References |
|
| Homozygous fertile | yes |
| 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 129S2/SvPas |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Subcortical band heterotopia / Orphanet_99796
MGI phenotypes (allele 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
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
- Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.;Kielar Michel, Tuy Françoise Phan Dinh, Bizzotto Sara, Lebrand Cécile, de Juan Romero Camino, Poirier Karine, Oegema Renske, Mancini Grazia Maria, Bahi-Buisson Nadia, Olaso Robert, Le Moing Anne-Gaëlle, Boutourlinsky Katia, Boucher Dominique, Carpentier Wassila, Berquin Patrick, Deleuze Jean-François, Belvindrah Richard, Borrell Victor, Welker Egbert, Chelly Jamel, Croquelois Alexandre, Francis Fiona, ;2014;Nature neuroscience;17;923-33; 24859200
- Characterization of the HeCo mutant mouse: a new model of subcortical band heterotopia associated with seizures and behavioral deficits.;Croquelois Alexandre, Giuliani Fabienne, Savary Christine, Kielar Michel, Amiot Clotilde, Schenk Françoise, Welker Egbert, ;2009;Cerebral cortex (New York, N.Y. : 1991);19;563-75; 18562329