| Status | Available to order |
| EMMA ID | EM:07626 |
| International strain name | STOCK Gjb6tm2.2Kwi/Cnrm |
| Alternative name | Cx30A88V |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Gjb6tm2.2Kwi |
| Gene/Transgene symbol | Gjb6 |
| Provider | Klaus Willecke |
| Provider affiliation | Molecular genetics, LIMES Institute, University of Bonn |
| Genetic information | A point mutation in Gjb6 (Cx30) was introduced leading to an exchange of alanine to valine in position 88 of Cx30 (Cx30A88V). The ubiquitous expression of Cx30A88V is under the control of the endogenous Cx30 promoter. Additionally a IRES-NLS-LacZ reporter gene was introduced, monitoring the Cx30A88V expression. |
| Phenotypic information | Hyperproliferative sebaceous glands, mild hyperkeratosis, hearing impairments. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
