MGI phenotypes (allele matching)
B6;129P2-Gjb2tm1Kwi/Cnrm
| Status | Available to order |
| EMMA ID | EM:00229 |
| International strain name | B6;129P2-Gjb2tm1Kwi/Cnrm |
| Alternative name | Cx26 KO |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Gjb2tm1Kwi, |
| Gene/Transgene symbol | Gjb2 |
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 connexin 26 (Gjb2) was homologously replaced by the pgk promoter-derived selection marker gene (neomycin resistance). |
| Phenotypic information | Lethality around 9.5 dpc caused by glucose transport defect through the placenta. |
| 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
- Porokeratotic eccrine ostial and dermal duct nevus / Orphanet_166286
- Palmoplantar keratoderma-deafness syndrome / Orphanet_2202
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome / Orphanet_2698
- Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
- Keratoderma hereditarium mutilans / Orphanet_494
- KID syndrome / Orphanet_477
- Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
Literature references
- Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice.;Gabriel H D, Jung D, Bützler C, Temme A, Traub O, Winterhager E, Willecke K, ;1998;The Journal of cell biology;140;1453-61; 9508777