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. |