B6NCrl;129P2-Gja1tm8Kwi/Cnrm
| Status | Available to order |
| EMMA ID | EM:02386 |
| International strain name | B6NCrl;129P2-Gja1tm8Kwi/Cnrm |
| Alternative name | Cx43floxCx43G138R |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Gja1tm8Kwi, |
| Gene/Transgene symbol | Gja1 |
Information from provider
| Provider | Klaus WILLECKE |
| Provider affiliation | Molekulargenetik, Institut fuer Genetik, Universitaet Bonn |
| Genetic information | After cre recombinase mediated deletion of the Cx43 coding region and the frt sites-flanked neomycin-resistance cassette, the point mutation Cx43 G138R and eGFP is expressed under the control of the endogenous Cx43 promoter. |
| Phenotypic information | Not in the loxP-flanked state; after ubiquitous expression of Cx43 G138R heterozygous mice have syndactilies, fur/skin and teeth abnormalities and homozygous Cx43 G138R/G138R mice are not viable. |
| Breeding history | After blastocyst injection the chimeras were bred with C57BL/6NCrl to obtain brown offspring. This brown offspring was backcrossed more than three times with C57BL/6NCrl. |
| References |
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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
- The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans.;Dobrowolski Radoslaw, Sasse Philipp, Schrickel Jan W, Watkins Marcus, Kim Jung-Sun, Rackauskas Mindaugas, Troatz Clemens, Ghanem Alexander, Tiemann Klaus, Degen Joachim, Bukauskas Feliksas F, Civitelli Roberto, Lewalter Thorsten, Fleischmann Bernd K, Willecke Klaus, ;2008;Human molecular genetics;17;539-54; 18003637