B6.129P2(Cg)-Gjb3tm2.2Kwi/Cnrm
| Status | Available to order |
| EMMA ID | EM:02384 |
| International strain name | B6.129P2(Cg)-Gjb3tm2.2Kwi/Cnrm |
| Alternative name | Cx31floxdNCx31F137L |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Gjb3tm2.2Kwi, |
| Gene/Transgene symbol | Gjb3 |
Information from provider
| Provider | Klaus WILLECKE |
| Provider affiliation | Molekulargenetik, Institut fuer Genetik, Universitaet Bonn |
| Genetic information | After cre recombinase-mediated deletion of the Cx31 (Gjb3) coding region, the point mutation Cx31-F137L is expressed under the control of the endogenous Cx31 promoter. One frt site between the two loxP sites is remaining in the genome, upon deletion of the frt sites-flanked neomycin-selection cassette. |
| Phenotypic information | Not in the loxP flanked state. After ubiquitous expression of Cx31-F137L, heterozygous mice have skin abnormalities and homozygous 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 once with flp recombinase deleter mice (nearly 100% C57BL/6NCrl) to delete the selection cassette and after that more than three times with C57BL/6NCrl. |
| 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 recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
- Neuropathy with hearing impairment / Orphanet_139512
- Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
- Erythrokeratodermia variabilis / Orphanet_317
Literature references
- The connexin31 F137L mutant mouse as a model for the human skin disease erythrokeratodermia variabilis (EKV).;Schnichels Marc, Wörsdörfer Philipp, Dobrowolski Radoslaw, Markopoulos Christian, Kretz Markus, Schwarz Gabriele, Winterhager Elke, Willecke Klaus, ;2007;Human molecular genetics;16;1216-24; 17446259