MGI phenotypes (allele matching)
B6;129-Gja5tm1Kwi/Cnrm
| Status | Available to order |
| EMMA ID | EM:01381 |
| International strain name | B6;129-Gja5tm1Kwi/Cnrm |
| Alternative name | Cx40 KO |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Gja5tm1Kwi, |
| Gene/Transgene symbol | Gja5 |
Information from provider
| Provider | Klaus WILLECKE |
| Provider affiliation | Molekulargenetik, Institut fuer Genetik, Universitaet Bonn |
| Genetic information | Exon 2, including the whole open reading frame of Gja5 (Cx40), is homologously replaced by the neomycin selection marker gene, which is maintained in the genome. |
| Phenotypic information | Heart defects like hypertrophy, arrhythmia |
| Breeding history | After blastocyst-injection the chimeras were bred with C57BL/6NCrl to obtain brown coat coloured offspring. This brown offspring was backcrossed to C57BL/6NCrl more than three times. |
| References |
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Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
| Breeding at archiving centre | Backcrossed to C57BL/6J |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Familial atrial fibrillation / Orphanet_334
Literature references
- Reduced cardiac conduction velocity and predisposition to arrhythmias in connexin40-deficient mice.;Kirchhoff S, Nelles E, Hagendorff A, Krüger O, Traub O, Willecke K, ;1998;Current biology : CB;8;299-302; 9501070
- Role of connexin40 in the autoregulatory response of the afferent arteriole.;Sorensen Charlotte Mehlin, Giese Isaiah, Braunstein Thomas Hartig, Brasen Jens Christian, Salomonsson Max, Holstein-Rathlou Niels-Henrik, ;2012;American journal of physiology. Renal physiology;303;F855-63; 22811484