MGI phenotypes (allele matching)
- no phenotypic analysis / MGI
STOCK Gja1tm6.2(Gjb3)Kwi/Cnrm
| Status | Available to order |
| EMMA ID | EM:01914 |
| International strain name | STOCK Gja1tm6.2(Gjb3)Kwi/Cnrm |
| Alternative name | Cx43KICx43floxCx31 |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Gja1tm6.2(Gjb3)Kwi, |
| Gene/Transgene symbol | Gja1 |
Information from provider
| Provider | Klaus WILLECKE |
| Provider affiliation | Molekulargenetik, Institut fuer Genetik, Universitaet Bonn |
| Genetic information | Instead of the whole open reading frame of exon2 of Cx43 (Gja1), a loxP sites-flanked construct is inserted containing the exon 2 of Cx43. One frt site 3' of the poly(A)-signal is remaining in the genome, upon deletion of a frt sites-flanked neomycin-selection cassette. After cre recombinase-mediated deletion of Cx43, Cx31 (Gjb3) is expressed under the control of the endogenous Cx43 promoter. |
| Phenotypic information | Not in the loxP flanked state. After cre recombinase-mediated deletion homozygous Cx43KICx31 mice die during the first 10 days, caused by heart malformation. |
| Breeding history | After blastocyst injection the chimeras were bred with C57BL/6NCrl to obtain brown coat colored offspring. This brown offspring was backcrossed to C57BL/6NCrl more than 3 times and one time with flp recombinase deleter mice to delete the selection cassette. |
| 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
- 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
- Connexin31 cannot functionally replace connexin43 during cardiac morphogenesis in mice.;Zheng-Fischhöfer Qingyi, Ghanem Alexander, Kim Jung-Sun, Kibschull Mark, Schwarz Gaby, Schwab Jörg O, Nagy James, Winterhager Elke, Tiemann Klaus, Willecke Klaus, ;2006;Journal of cell science;119;693-701; 16449318