B6N;129P2-Gja1tm10Kwi/Cnrm
| Status | Available to order |
| EMMA ID | EM:06034 |
| International strain name | B6N;129P2-Gja1tm10Kwi/Cnrm |
| Alternative name | Cx43D378stop |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Gja1tm10Kwi, |
| Gene/Transgene symbol | Gja1 |
Information from provider
| Provider | Klaus Willecke |
| Provider affiliation | LIMES Institute, University of Bonn |
| Genetic information | The Cx43D378stopflox construct was inserted in the Gja1 locus. The mice are viable in the floxed state. After cre recombinase-mediated deletion of the wild-type Gja1 sequence, the Cx43D378stop mutation is expressed, followed by a GFP reporter sequence coupled to Cx43D378stop expression via an IRES sequence. |
| Phenotypic information | The cardiac-restricted expression of the Cx43D378stop mutation leads to neonatal death of homozygous animals. In tamoxifen-induced adult mice, expression of the Cx43D378stop mutation in the heart leads to lethal cardiac arrhythmias. Floxed mice have a normal life expectancy. |
| Breeding history | The line was backcrossed at least 3 times to C57BL/6N. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Autosomal dominant palmoplantar keratoderma and congenital alopecia / Orphanet_1010
- Oculodentodigital dysplasia / Orphanet_2710
- Craniometaphyseal dysplasia / Orphanet_1522
- Syndactyly type 3 / Orphanet_93404
- Erythrokeratodermia variabilis / Orphanet_317
Literature references
- 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.;Lübkemeier Indra, Requardt Robert Pascal, Lin Xianming, Sasse Philipp, Andrié René, Schrickel Jan Wilko, Chkourko Halina, Bukauskas Feliksas F, Kim Jung-Sun, Frank Marina, Malan Daniela, Zhang Jiong, Wirth Angela, Dobrowolski Radoslaw, Mohler Peter J, Offermanns Stefan, Fleischmann Bernd K, Delmar Mario, Willecke Klaus, ;2013;Basic research in cardiology;108;348; 23558439