MGI phenotypes (allele matching)
B6;129P2-Gjb6tm1.1Fama/Cnrm
| Status | Available to order |
| EMMA ID | EM:05214 |
| International strain name | B6;129P2-Gjb6tm1.1Fama/Cnrm |
| Alternative name | Cx30KICx30T5M |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Gjb6tm1.1Fama, |
| Gene/Transgene symbol | Gjb6 |
Information from provider
| Provider | Klaus WILLECKE |
| Provider affiliation | Molekulargenetik, Institut fuer Genetik, Universitaet Bonn |
| Genetic information | In this mouse line the Cx30 (Gjb6) coding DNA is replaced by the Cx30T5M point mutation followed by an IRES-LacZ reporter DNA. The point mutation and the reporter gene are controlled by the endogenous Cx30 promoter. |
| Phenotypic information | Homozygous Cx30(T5M/T5M) mice exhibited an increase in their hearing thresholds. |
| Breeding history | Founder animals were backcrossed to C57BL/6 more than three times (more than 87.5%). |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
- Hidrotic ectodermal dysplasia / Orphanet_189
- KID syndrome / Orphanet_477
- Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
Literature references
- The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice.;Schütz Melanie, Scimemi Pietro, Majumder Paromita, De Siati Romolo Daniele, Crispino Giulia, Rodriguez Laura, Bortolozzi Mario, Santarelli Rosamaria, Seydel Anke, Sonntag Stephan, Ingham Neil, Steel Karen P, Willecke Klaus, Mammano Fabio, ;2010;Human molecular genetics;19;4759-73; 20858605
- Inner Ear Connexin Channels: Roles in Development and Maintenance of Cochlear Function.;Mammano Fabio, ;2019;Cold Spring Harbor perspectives in medicine;9;117-126; 30181354
- Ca2+ signaling, apoptosis and autophagy in the developing cochlea: Milestones to hearing acquisition.;Mammano Fabio, Bortolozzi Mario, ;2018;Cell calcium;70;78; 28578918
- A rapid and sensitive assay of intercellular coupling by voltage imaging of gap junction networks.;Ceriani Federico, Mammano Fabio, ;2013;Cell communication and signaling : CCS;11;102825; 24144139
- A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice.;Kuang Yuanyuan, Zorzi Veronica, Buratto Damiano, Ziraldo Gaia, Mazzarda Flavia, Peres Chiara, Nardin Chiara, Salvatore Anna Maria, Chiani Francesco, Scavizzi Ferdinando, Raspa Marcello, Qiang Min, Chu Youjun, Shi Xiaojie, Li Yu, Liu Lili, Shi Yaru, Zonta Francesco, Yang Guang, Lerner Richard A, Mammano Fabio, ;2020;EBioMedicine;57;; 32553574