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Epm2atm1Kzy
Targeted Allele Detail
Nomenclature
Symbol: Epm2atm1Kzy
Name: epilepsy, progressive myoclonic epilepsy, type 2 gene alpha; targeted mutation 1, Kazuhiro Yamakawa
MGI ID: MGI:2182627
Synonyms: Epm2a-, laforin-deficient
Gene: Epm2a  Location: Chr10:11343404-11459644 bp, + strand  Genetic Position: Chr10, 3.66 cM, cytoband A
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:76688
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation details
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Epm2a Mutation:  5 strains or lines available
References
Original:  J:76688 Ganesh S, et al., Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice. Hum Mol Genet. 2002 May 15;11(11):1251-62
All:  17 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory