Epm2atm1.1Kzy
Targeted Allele Detail
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| Symbol: |
Epm2atm1.1Kzy |
| Name: |
epilepsy, progressive myoclonic epilepsy, type 2 gene alpha; targeted mutation 1.1, Kazuhiro Yamakawa |
| MGI ID: |
MGI:6118039 |
| Gene: |
Epm2a Location: Chr10:11219148-11335388 bp, + strand Genetic Position: Chr10, 3.66 cM, cytoband A
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| Alliance: |
Epm2atm1.1Kzy page
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| Germline Transmission: |
Earliest citation of germline transmission:
J:199271
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| Parent Cell Line: |
E14 (ES Cell)
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| Strain of Origin: |
129P2/OlaHsd
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| Allele Type: |
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Targeted (Null/knockout) |
| Mutations: |
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Insertion, Intragenic deletion
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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. Cre-mediated recombination removed the selection cassette.
(J:199271)
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| Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
| Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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| Carrying any Epm2a Mutation: |
28 strains or lines available
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| Original: |
J:199271 Nitschke F, et al., Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease. Cell Metab. 2013 May 7;17(5):756-67 |
| All: |
5 reference(s) |
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Analysis Tools
