Abstract

The neurological mutant mouse strain El is a model for complex partial seizures in humans. The inheritance of epileptic seizures with seven conventional chromosomal markers and over 60 endogenous proviral markers was studied by means of backcrosses of El with two seizure-resistant strains, DBA/2J and ABP/LeJ. The major gene responsible for this epileptic phenotype ( El-1 ) was localized to a region distal with respect to the centromere on chromosome 9. At least one other gene, El-2 , linked to proviral markers on chromosome 2, also influences the seizure phenotype. In addition, a potential modifier of seizures was detected in the DBA/2J background. The location of El-1 on distal chromosome 9 may allow identification of an epilepsy candidate gene in humans on the basis of conserved synteny with human chromosome 3.

Keywords

EpilepsyBiologyGeneticsPhenotypeSyntenyChromosomeGeneGenetic linkageNeuroscience

MeSH Terms

AnimalsChromosome MappingCrossesGeneticEpilepsyFemaleGenetic Predisposition to DiseaseMaleMiceMiceInbred StrainsMiceNeurologic MutantsRecombinationGeneticSeizuresSoftware

Affiliated Institutions

Related Publications

Parameters of the human genome.

Chromosome arm lengths are the critical parameters of the human genome. The physical length is required to scale radiation hybrid and other maps to megabases. The genetic length...

1991 Proceedings of the National Academy o... 519 citations

Publication Info

Year
1991
Type
article
Volume
253
Issue
5020
Pages
669-673
Citations
185
Access
Closed

Social Impact

Altmetric

Social media, news, blog, policy document mentions

Citation Metrics

185
OpenAlex
3
Influential
153
CrossRef

Cite This

Matthew L. Rise, Wayne N. Frankel, John M. Coffin et al. (1991). Genes for Epilepsy Mapped in the Mouse. Science , 253 (5020) , 669-673. https://doi.org/10.1126/science.1871601

Identifiers

DOI
10.1126/science.1871601
PMID
1871601

Data Quality

Data completeness: 81%