Gja1^tm10Kwi
Targeted Allele Detail

Summary

• Symbol: Gja1^tm10Kwi
• Name: gap junction protein, alpha 1; targeted mutation 10, Klaus Willecke
• MGI ID: MGI:5476936
• Synonyms: Cx43D378stop, Cx43floxD378stop
• Gene: Gja1 Location: Chr10:56253297-56266519 bp, + strand Genetic Position: Chr10, 28.64 cM
• Alliance: Gja1^tm10Kwi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:194957
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change, Reporter)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: 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copy of the coding region in which the triplet encoding aspartic acid at amino acid position 378 of the protein has been replaced by a translation termination codon (D378Ter), which is followed by an internal ribosomal entry site (IRES) and a cDNA encoding enhanced green fluorescent protein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)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Gja1 Mutation: 60 strains or lines available

References

• Original: J:194957 Lubkemeier I, et al., Deletion of the last five C-terminal amino acid residues of connexin43 leads to lethal ventricular arrhythmias in mice without affecting coupling via gap junction channels. Basic Res Cardiol. 2013 May;108(3):348
• All: 3 reference(s)