El1^EL
QTL Variant Detail

Summary

• QTL variant: El1^EL
• Name: epilepsy 1; EL
• MGI ID: MGI:2157558
• Synonyms: EL
• QTL: El1 Location: Chr9:75682646-114303447 bp Genetic Position: Chr9, Syntenic

Variant origin

• Strain of Specimen: EL

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers susceptibility to epileptic seizures compared to ABP/LeJ and DBA/2J. (J:11381)
• Inheritance: Not Specified

Notes

The EL mouse strain was developed from mice with an increased susceptibility for epilepsy. These mice were first reported as a spontaneous mutation arising in the DDY strain. The succeptibility for epilepsy was subsequently shown to be the result of alleles at two or more loci.

Mapping and Phenotype information for this QTL, its variants and associated markers

J:14263

All cross data described here is reported and further expanded in Rise, et al, Science 1991; 253:669-673 (J11381).

J:11381

(DBA/2J x EL)F1 x DBA/2J and (ABP/LeJ x EL)F1 x ABP/LeJ backcross populations were used to map QTLs associated with susceptibility to epileptic seizures. Parental strain EL is highly susceptible to epileptic seizures whereas parental strains DBA/2J and ABP/LeJ are resistant. F1 hybrid animals exhibit seizure susceptibility to a lesser degree than parental strain EL.

A locus with significant association to epileptic seizures, El1, was detected on mouse Chromosome 9 (P<0.001) in both backcross populations. El1 maps near Mpmv27, Myo5a, Bmp5, and Glb1 and gives a peak LOD score of 5.88 between Glb1 and Bmp5.

7.13.2015 Curator Note: Because two different crosses were used in this study we consider each QTL to be unique. We have left the QTL identified here, using the (DBA/2J x EL)F1 x DBA/2J backcross, with the original El1 nomenclature. We have named the QTL identified using the (ABP/LeJ x EL)F1 x ABP/LeJ backcross as El7.

A locus significantly linked to seizures, El2, was detected on mouse Chromosome 2(P<0.001) in the (ABP/LeJ x EL)F1 x ABP/LeJ backcross population. El2 is linked to Mpmv28 with a peak LOD score of 5.2.

References

• Original: J:11381 Rise ML, et al., Genes for epilepsy mapped in the mouse. Science. 1991 Aug 9;253(5020):669-73
• All: 47 reference(s)