129S2.Cg-Eml1^heco/Orl

Status	Available to order
EMMA ID	EM:11018
International strain name	129S2.Cg-Eml1^heco/Orl
Alternative name	Heterotopic cortex HeCo-Sv129
Strain type	Spontaneous
Allele/Transgene symbol	Eml1^heco,
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	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
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

congenital nervous system abnormality / DOID:2490

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

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

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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129S2.Cg-Eml1heco/Orl