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Targeted Allele Detail
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: Chr10:11343445-11457477 bp, + strand  Genetic Position: Chr10, 3.66 cM, cytoband A
Germline Transmission:  Earliest citation of germline transmission: J:76688
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsExon 4 encoding the dual-specificity phosphatase domain (DSPD) was replaced with a neomycin resistance gene via homologous recombination. Absence of gene expression was verified by Northern blot and RT-PCR analysis of brain and liver tissue from homozygous mutant animals using probes to the DSPD exon and upstream exons 1-3. (J:76688)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 8 anatomical structures
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:  6 strains or lines available
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:  27 reference(s)

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last database update
MGI 6.14
The Jackson Laboratory