Epm2a^em1Cwor
Endonuclease-mediated Allele Detail

Summary

• Symbol: Epm2a^em1Cwor
• Name: epilepsy, progressive myoclonic epilepsy, type 2 gene alpha; endonuclease-mediated mutation 1, Carolyn Worby
• MGI ID: MGI:6828602
• Synonyms: Epm2a^R240X, Laforin R240X
• Gene: Epm2a Location: Chr10:11219148-11335388 bp, + strand Genetic Position: Chr10, 3.66 cM, cytoband A
• Alliance: Epm2a^em1Cwor page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9 endonuclease-mediated genome editing is used to create an amino acid substitution at position 240 (arginine to termination codon, R240X). Loss of function mutations in laforin, such as R241X (corresponding to mouse R240X), are associated with Lafora disease, a rare and severe form of progressive myoclonus epilepsy. (J:335247)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Epm2a Mutation: 25 strains or lines available

References

• Original: J:335247 Burgos DF, et al., Epm2a(R240X) knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a(-/-) mice. Neurobiol Dis. 2023 Apr 13;181:106119
• All: 1 reference(s)