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Allele : Epm2a<tm1Kzy> epilepsy, progressive myoclonic epilepsy, type 2 gene alpha; targeted mutation 1, Kazuhiro Yamakawa

Primary Identifier  MGI:2182627 Allele Type  Targeted
Attribute String  Null/knockout Gene  Epm2a
Transmission  Germline Strain of Origin  129P2/OlaHsd
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Insertion,
  • Intragenic deletion
  • synonyms:
  • laforin-deficient,
  • Epm2a-,
  • Epm2a-,
  • laforin-deficient
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

50 Publication categories

Trail: Allele