Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Gja1tm10Kwi
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:	Gja1tm10Kwi page

Germline Transmission:	Earliest citation of germline transmission: J:194957
Parent Cell Line:	HM-1 (ES Cell)
Strain of Origin:	129P2/OlaHsd-Hprt1b-m3

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copy of the coding region in which the triplet encoding aspartic acid at amino acid position 378 of the protein has been replaced by a translation termination codon (D378Ter), which is followed by an internal ribosomal entry site (IRES) and a cDNA encoding enhanced green fluorescent protein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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:	59 strains or lines available

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)