B6.129P2-Gjb6^tm1Kwi/Cnrm

MGI allele-associated human disease models

• autosomal recessive nonsyndromic deafness 1A / DOID:0110475

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

• Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential.;Teubner Barbara, Michel Vincent, Pesch Jörg, Lautermann Jürgen, Cohen-Salmon Martine, Söhl Goran, Jahnke Klaus, Winterhager Elke, Herberhold Claus, Hardelin Jean-Pierre, Petit Christine, Willecke Klaus, ;2003;Human molecular genetics;12;13-21; 12490528
• ATP release through connexin hemichannels and gap junction transfer of second messengers propagate Ca2+ signals across the inner ear.;Anselmi Fabio, Hernandez Victor H, Crispino Giulia, Seydel Anke, Ortolano Saida, Roper Stephen D, Kessaris Nicoletta, Richardson William, Rickheit Gesa, Filippov Mikhail A, Monyer Hannah, Mammano Fabio, ;2008;Proceedings of the National Academy of Sciences of the United States of America;105;18770-5; 19047635
• Coordinated calcium signalling in cochlear sensory and non-sensory cells refines afferent innervation of outer hair cells.;Ceriani Federico, Hendry Aenea, Jeng Jing-Yi, Johnson Stuart L, Stephani Friederike, Olt Jennifer, Holley Matthew C, Mammano Fabio, Engel Jutta, Kros Corné J, Simmons Dwayne D, Marcotti Walter, ;2019;The EMBO journal;38;301-317; 30804003
• 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
• Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway.;Fetoni Anna Rita, Zorzi Veronica, Paciello Fabiola, Ziraldo Gaia, Peres Chiara, Raspa Marcello, Scavizzi Ferdinando, Salvatore Anna Maria, Crispino Giulia, Tognola Gabriella, Gentile Giulia, Spampinato Antonio Gianmaria, Cuccaro Denis, Guarnaccia Maria, Morello Giovanna, Van Camp Guy, Fransen Erik, Brumat Marco, Girotto Giorgia, Paludetti Gaetano, Gasparini Paolo, Cavallaro Sebastiano, Mammano Fabio, ;2018;Redox biology;19;379; 30199819
• Ca²⁺ signaling, apoptosis and autophagy in the developing cochlea: Milestones to hearing acquisition.;Mammano Fabio, Bortolozzi Mario, ;2018;Cell calcium;70;14013-8; 28578918
• Mouse Panx1 Is Dispensable for Hearing Acquisition and Auditory Function.;Zorzi Veronica, Paciello Fabiola, Ziraldo Gaia, Peres Chiara, Mazzarda Flavia, Nardin Chiara, Pasquini Miriam, Chiani Francesco, Raspa Marcello, Scavizzi Ferdinando, Carrer Andrea, Crispino Giulia, Ciubotaru Catalin D, Monyer Hannah, Fetoni Anna R, M Salvatore Anna, Mammano Fabio, ;2017;Frontiers in molecular neuroscience;10;18776-81; 29234270
• Reduced phosphatidylinositol 4,5-bisphosphate synthesis impairs inner ear Ca2+ signaling and high-frequency hearing acquisition.;Rodriguez Laura, Simeonato Elena, Scimemi Pietro, Anselmi Fabio, Calì Bianca, Crispino Giulia, Ciubotaru Catalin D, Bortolozzi Mario, Ramirez Fabian Galindo, Majumder Paromita, Arslan Edoardo, De Camilli Pietro, Pozzan Tullio, Mammano Fabio, ;2012;Proceedings of the National Academy of Sciences of the United States of America;109;28-32; 22891314
• Coordinated control of connexin 26 and connexin 30 at the regulatory and functional level in the inner ear.;Ortolano Saida, Di Pasquale Giovanni, Crispino Giulia, Anselmi Fabio, Mammano Fabio, Chiorini John A, ;2008;Proceedings of the National Academy of Sciences of the United States of America;105;15647; 19047647
• Deafness induced by Connexin 26 (GJB2) deficiency is not determined by endocochlear potential (EP) reduction but is associated with cochlear developmental disorders.;Chen Jin, Chen Jing, Zhu Yan, Liang Chun, Zhao Hong-Bo, ;2014;Biochemical and biophysical research communications;448;10762; 24732355
• Connexin26 gap junction mediates miRNA intercellular genetic communication in the cochlea and is required for inner ear development.;Zhu Yan, Zong Liang, Mei Ling, Zhao Hong-Bo, ;2015;Scientific reports;5;195-203; 26490746
• Pannexin1 channels dominate ATP release in the cochlea ensuring endocochlear potential and auditory receptor potential generation and hearing.;Chen Jin, Zhu Yan, Liang Chun, Chen Jing, Zhao Hong-Bo, ;2015;Scientific reports;5;1703-12; 26035172
• A deafness mechanism of digenic Cx26 (GJB2) and Cx30 (GJB6) mutations: Reduction of endocochlear potential by impairment of heterogeneous gap junctional function in the cochlear lateral wall.;Mei Ling, Chen Jin, Zong Liang, Zhu Yan, Liang Chun, Jones Raleigh O, Zhao Hong-Bo, ;2017;Neurobiology of disease;108;C569-C578; 28823936
• Connexin30-mediated intercellular communication plays an essential role in epithelial repair in the cochlea.;Forge Andrew, Jagger Daniel J, Kelly John J, Taylor Ruth R, ;2013;Journal of cell science;126;2588; 23424196
• Mechanisms of hearing loss and cell death in the cochlea of connexin mutant mice.;Chen Bei, Xu Hongen, Mi Yanfang, Jiang Wei, Guo Dan, Zhang Jinhui, Zhao Yulin, Tang Wenxue, ;2020;American journal of physiology. Cell physiology;319;227; 32755449
• Connexin 30 Deficiency Attenuates Chronic but Not Acute Phases of Experimental Autoimmune Encephalomyelitis Through Induction of Neuroprotective Microglia.;Fang Mei, Yamasaki Ryo, Li Guangrui, Masaki Katsuhisa, Yamaguchi Hiroo, Fujita Atsushi, Isobe Noriko, Kira Jun-Ichi, ;2018;Frontiers in immunology;9;3011-3023; 30464764
• Connexin 30 deficiency attenuates A2 astrocyte responses and induces severe neurodegeneration in a 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine hydrochloride Parkinson's disease animal model.;Fujita Atsushi, Yamaguchi Hiroo, Yamasaki Ryo, Cui Yiwen, Matsuoka Yuta, Yamada Ken-Ichi, Kira Jun-Ichi, ;2018;Journal of neuroinflammation;15;616878; 30103794
• Organ-on-chip model shows that ATP release through connexin hemichannels drives spontaneous Ca²⁺ signaling in non-sensory cells of the greater epithelial ridge in the developing cochlea.;Mazzarda Flavia, D'Elia Annunziata, Massari Roberto, De Ninno Adele, Bertani Francesca Romana, Businaro Luca, Ziraldo Gaia, Zorzi Veronica, Nardin Chiara, Peres Chiara, Chiani Francesco, Tettey-Matey Abraham, Raspa Marcello, Scavizzi Ferdinando, Soluri Alessandro, Salvatore Anna Maria, Yang Jun, Mammano Fabio, ;2020;Lab on a chip;20;; 32700707
• Connexin 30 Deficiency Ameliorates Disease Progression at the Early Phase in a Mouse Model of Amyotrophic Lateral Sclerosis by Suppressing Glial Inflammation.;Hashimoto Yu, Yamasaki Ryo, Ko Senri, Matsuo Eriko, Kobayakawa Yuko, Masaki Katsuhisa, Matsuse Dai, Isobe Noriko, ;2022;International journal of molecular sciences;23;; 36555685
• miRNA and mRNA Profiling Links Connexin Deficiency to Deafness via Early Oxidative Damage in the Mouse Stria Vascularis.;Gentile Giulia, Paciello Fabiola, Zorzi Veronica, Spampinato Antonio Gianmaria, Guarnaccia Maria, Crispino Giulia, Tettey-Matey Abraham, Scavizzi Ferdinando, Raspa Marcello, Fetoni Anna Rita, Cavallaro Sebastiano, Mammano Fabio, ;2020;Frontiers in cell and developmental biology;8;; 33569381