MGI phenotypes (allele matching)
- cardiovascular system phenotype / MGI
B6.129P2-Gja1tm1Kwi/Cnrm
| Status | Available to order |
| EMMA ID | EM:00327 |
| International strain name | B6.129P2-Gja1tm1Kwi/Cnrm |
| Alternative name | Cx43 flox |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Gja1tm1Kwi, |
| Gene/Transgene symbol | Gja1 |
Information from provider
| Provider | Klaus WILLECKE |
| Provider affiliation | Molekulargenetik, Institut fuer Genetik, Universitaet Bonn |
| Genetic information | The whole open reading frame (exon 2) of Cx43 (Gja1) is replaced by a three loxP sites-flanked construct, containing exon 2 of Gja1 and a neomycin selection cassette. After cre recombinase-mediated recombination, a lacZ reporter gene is expressed under the control of the endogenous Gja1 promoter. |
| Phenotypic information | No major defects (loxP-flanked allele); reduced expression of Gja1 (Cx43) protein. |
| 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 for 6 generations to C57BL/6J |
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
- Endothelium-specific replacement of the connexin43 coding region by a lacZ reporter gene.;Theis M, de Wit C, Schlaeger T M, Eckardt D, Krüger O, Döring B, Risau W, Deutsch U, Pohl U, Willecke K, ;2001;Genesis (New York, N.Y. : 2000);29;1-13; 11135457
- Connexin43 contributes to electrotonic conduction across scar tissue in the intact heart.;Mahoney Vanessa M, Mezzano Valeria, Mirams Gary R, Maass Karen, Li Zhen, Cerrone Marina, Vasquez Carolina, Bapat Aneesh, Delmar Mario, Morley Gregory E, ;2016;Scientific reports;6;26744; 27244564