Strain Information | |
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Image | |
BRC No. | RBRC02715 |
Type | Targeted Mutation |
Species | Mus musculus |
Strain name | B6.129P2-Epm2a<tm1Kzy> |
Former Common name | Epm2a-KO |
H-2 Haplotype | |
ES Cell line | E14 [129P2/OlaHsd] |
Background strain | |
Appearance | |
Strain development | |
Strain description | |
Colony maintenance | |
References | Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice. Ganesh S, Delgado-Escueta A V, Sakamoto T, Avila M R, Machado-Salas J, Hoshii Y, Akagi T, Gomi H, Suzuki T, Amano K, Agarwala K L, Hasegawa Y, Bai D S, Ishihara T, Hashikawa T, Itohara S, Cornford E M, Niki H, Yamakawa K Hum. Mol. Genet., 11, 1251-1262 (2002). 12019206 |
Health Report | |
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Examination Date / Room / Rack |
Gene | |||||||
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Gene Symbol | Gene Name | Chr. | Allele Symbol | Allele Name | Common Names | Promoter | Diseases Related to This Gene |
Epm2a | epilepsy, progressive myoclonic epilepsy, type 2 gene alpha | 10 | Epm2a | targeted mutation 1, Kazuhiro Yamakawa | |||
neo | neomycin resistance gene (E. coli) | 10 | mouse phosphoglycerate kinase promoter (PGK promoter) |
Phenotype | |
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Annotation by Mammalian phenotyhpe ontology | more 35 phenotypes |
Detailed phenotype data |
Ordering Information | |
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Donor DNA | mouse phosphoglycerate kinase promoter (PGK promoter), E. coli neo, mouse Epm2a genomic DNA |
Research application | Mouse Models for Human Disease |
Specific Term and Conditions | The RECIPIENT of BIOLOGICAL RESOURCE shall obtain a prior written consent on use of it from the DEPOSITOR. In publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. Hum. Mol. Genet., 11, 1251-1262 (2002). In publishing the research results to be obtained by use of the BIOLOGICAL RESOURCE, an acknowledgment to the DEPOSITOR is requested. The RECIPIENT agrees to use the BIOLOGICAL RESOURCE only for publication of research papers. The RECIPIENT must contact the DEPOSITOR in the case of application for any patents or commercial use with the results from the use of the BIOLOGICAL RESOURCE. |
Depositor | Kazuhiro Yamakawa (RIKEN) |
Strain Status | Frozen embryos Frozen sperm |
Strain Availability | Recovered litters from cryopreserved embryos (2 to 4 months) Cryopreserved sperm (within 1 month) Cryopreserved embryos (within 1 month) |
Additional Info. | Necessary documents for ordering:
Genotyping protocol -PCR- |
BRC mice in Publications |
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No Data |