A loxP site has been introduced 5' of the coding region of the gene, which is followed by a frt-flanked, inverted cassette containing the neomycin phosphotransferase gene under control of the phosphoglycerate kinase promoter (PGK-neo) and a second loxP site. Immediately downstream is inserted a construct containing a second copy of the coding region in which the triplet encoding aspartic acid at amino acid position 378 of the protein has been replaced by a translation termination codon (D378Ter), which is followed by an internal ribosomal entry site (IRES) and a cDNA encoding enhanced green fluorescent protein (EGFP). Deletion of the wild-type coding region and the PGK-neo cassette by Cre recombinase mediated recombination will result in co-expression of EGFP and the truncated GJA1 protein, which lacks five C-terminal amino acids that constitute the tight junction protein 1 (Tjp1, also called zonula occludens 1, ZO-1) binding domain. (J:194957)
Basic Information
Insertion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count