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Allele : Gja5<tm2Kwi> gap junction protein, alpha 5; targeted mutation 2, Klaus Willecke

Primary Identifier  MGI:5544453 Allele Type  Targeted
Attribute String  Humanized sequence, Reporter Gene  Gja5
Transmission  Germline Strain of Origin  129P2/OlaHsd-Hprt1<b-m3>
Is Recombinase  false Is Wild Type  false
molecularNote  The endogenous gene was modified by introduction of a mutation resulting in replacement of alanine by serine at amino acid position 96 of the protein (A96S) and, downstream of the gene, an internal ribosomal entry site (IRES), the coding sequence for enhanced green fluorescent protein (EGFP) and a frt site-flanked neomycin resistance cassette. The A96S mutation, which lies within the highly conserved pore-forming domain of the protein, was identified in a patient who experienced extended periods of atrial fibrillation.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • Cx40A96SNeo,
  • Cx40A96SNeo
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories

Trail: Allele