Epm2a<tm1Kzy> Targeted Allele Detail MGI Mouse (MGI:2182627)

Epm2a^tm1Kzy
Targeted Allele Detail

Summary

Symbol:	Epm2a^tm1Kzy
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: Chr10:11219148-11335388 bp, + strand Genetic Position: Chr10, 3.66 cM, cytoband A
Alliance:	Epm2a^tm1Kzy page

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: Exon 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)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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:	28 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:	46 reference(s)

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