B6.129S4-Gjb1^tm1Kwi/Cnrm

Status	Available to order
EMMA ID	EM:00243
International strain name	B6.129S4-Gjb1^tm1Kwi/Cnrm
Alternative name	Cx32 KO
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Gjb1^tm1Kwi
Gene/Transgene symbol	Gjb1

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 gap junction membrane channel protein beta 1 (Gjb1; connexin 32) is homologously replaced by a selection marker gene (neomycin resistance) which is still in the genome.
Phenotypic information	Degeneration of myelin in older mice.
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	Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice.;Nelles E, Bützler C, Jung D, Temme A, Gabriel H D, Dahl U, Traub O, Stümpel F, Jungermann K, Zielasek J, Toyka K V, Dermietzel R, Willecke K, ;1996;Proceedings of the National Academy of Sciences of the United States of America;93;9565-70; 8790370

Information from EMMA

Archiving centre	CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy
Breeding at archiving centre	Backcrossed to C57BL/6J

Disease and phenotype information

MGI allele-associated human disease models

Charcot-Marie-Tooth disease X-linked dominant 1 / DOID:0110209

Orphanet associated rare diseases, based on orthologous gene matching

X-linked Charcot-Marie-Tooth disease type 1 / Orphanet_101075
X-linked progressive cerebellar ataxia / Orphanet_1175

MGI phenotypes (allele matching)

demyelination / MGI
abnormal Schwann cell morphology / MGI
abnormal nervous system morphology / MGI
abnormal myelin sheath morphology / MGI
abnormal myelination / MGI
behavior/neurological phenotype / MGI
abnormal nerve conduction / MGI
abnormal axon morphology / MGI
abnormal liver morphology / MGI
decreased body weight / MGI
nervous system phenotype / MGI

MGI phenotypes (gene matching)

abnormal liver morphology / MGI
abnormal myelination / MGI
demyelination / MGI
abnormal Schwann cell morphology / MGI
decreased body weight / MGI
nervous system phenotype / MGI
abnormal nervous system morphology / MGI
abnormal myelin sheath morphology / MGI
behavior/neurological phenotype / MGI
abnormal nerve conduction / MGI
abnormal axon morphology / MGI

Literature references

Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice.;Nelles E, Bützler C, Jung D, Temme A, Gabriel H D, Dahl U, Traub O, Stümpel F, Jungermann K, Zielasek J, Toyka K V, Dermietzel R, Willecke K, ;1996;Proceedings of the National Academy of Sciences of the United States of America;93;9565-70; 8790370
Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects.;Sargiannidou Irene, Vavlitou Natalie, Aristodemou Sophia, Hadjisavvas Andreas, Kyriacou Kyriacos, Scherer Steven S, Kleopa Kleopas A, ;2009;The Journal of neuroscience : the official journal of the Society for Neuroscience;29;4736-49; 19369543
Disruption of oligodendrocyte gap junctions in experimental autoimmune encephalomyelitis.;Markoullis Kyriaki, Sargiannidou Irene, Gardner Christopher, Hadjisavvas Andreas, Reynolds Richard, Kleopa Kleopas A, ;2012;Glia;60;1053-66; 22461072
Transgenic replacement of Cx32 in gap junction-deficient oligodendrocytes rescues the phenotype of a hypomyelinating leukodystrophy model.;Schiza Natasa, Sargiannidou Irene, Kagiava Alexia, Karaiskos Christos, Nearchou Marianna, Kleopa Kleopas A, ;2015;Human molecular genetics;24;2049-64; 25524707
AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy.;Kagiava Alexia, Karaiskos Christos, Richter Jan, Tryfonos Christina, Jennings Matthew J, Heslegrave Amanda J, Sargiannidou Irene, Stavrou Marina, Zetterberg Henrik, Reilly Mary M, Christodoulou Christina, Horvath Rita, Kleopa Kleopas A, ;2021;Gene therapy;28;659-675; 33692503
Oxaliplatin-induced neurotoxicity is mediated through gap junction channels and hemichannels and can be prevented by octanol.;Kagiava Alexia, Theophilidis George, Sargiannidou Irene, Kyriacou Kyriacos, Kleopa Kleopas A, ;2015;Neuropharmacology;97;289-305; 26044641
Connexin32 ameliorates epithelial-to-mesenchymal-transition in diabetic renal tubular via inhibiting NOX4.;Sun Xiaohong, Xiao Haiming, Li Shanshan, Chen Rui, Lin Zeyuan, Yang Yan, Chen Zhiquan, Deng Li, Huang Heqing, ;2022;Pharmacological research;176;106084; 35051590
Connexin32 ameliorates renal fibrosis in diabetic mice by promoting K48-linked NADPH oxidase 4 polyubiquitination and degradation.;Chen Zhiquan, Sun Xiaohong, Chen Qiuhong, Lan Tian, Huang Kaipeng, Xiao Haiming, Lin Zeyuan, Yang Yan, Liu Peiqing, Huang Heqing, ;2020;British journal of pharmacology;177;145-160; 31465542
Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy.;Vavlitou Natalie, Sargiannidou Irene, Markoullis Kyriaki, Kyriacou Kyriacos, Scherer Steven S, Kleopa Kleopas A, ;2010;Journal of neuropathology and experimental neurology;69;945-58; 20720503
Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy.;Kagiava Alexia, Sargiannidou Irene, Theophilidis George, Karaiskos Christos, Richter Jan, Bashiardes Stavros, Schiza Natasa, Nearchou Marianna, Christodoulou Christina, Scherer Steven S, Kleopa Kleopas A, ;2016;Proceedings of the National Academy of Sciences of the United States of America;113;E2421-9; 27035961
Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model.;Georgiou Elena, Sidiropoulou Kyriaki, Richter Jan, Papaneophytou Christos, Sargiannidou Irene, Kagiava Alexia, von Jonquieres Georg, Christodoulou Christina, Klugmann Matthias, Kleopa Kleopas A, ;2017;Brain : a journal of neurology;140;599-616; 28100454
Efficacy of AAV serotypes to target Schwann cells after intrathecal and intravenous delivery.;Kagiava A, Richter J, Tryfonos C, Leal-Julià M, Sargiannidou I, Christodoulou C, Bosch A, Kleopa K A, ;2021;Scientific reports;11;23358; 34857831
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.;Jennings Matthew J, Kagiava Alexia, Vendredy Leen, Spaulding Emily L, Stavrou Marina, Hathazi Denisa, Grüneboom Anika, De Winter Vicky, Gess Burkhard, Schara Ulrike, Pogoryelova Oksana, Lochmüller Hanns, Borchers Christoph H, Roos Andreas, Burgess Robert W, Timmerman Vincent, Kleopa Kleopas A, Horvath Rita, ;2022;Brain : a journal of neurology;145;3999-4015; 35148379
Connexin32 plays a crucial role in ROS-mediated endoplasmic reticulum stress apoptosis signaling pathway in ischemia reperfusion-induced acute kidney injury.;Gu Yu, Huang Fei, Wang Yanling, Chen Chaojin, Wu Shan, Zhou Shaoli, Hei Ziqing, Yuan Dongdong, ;2018;Journal of translational medicine;16;117; 29728112
Crosstalk Between Connexin32 and Mitochondrial Apoptotic Signaling Pathway Plays a Pivotal Role in Renal Ischemia Reperfusion-Induced Acute Kidney Injury.;Chen Chaojin, Yao Weifeng, Wu Shan, Zhou Shaoli, Ge Mian, Gu Yu, Li Xiang, Chen Guihua, Bellanti Joseph A, Zheng Song Guo, Yuan Dongdong, Hei Ziqing, ;2019;Antioxidants & redox signaling;30;1521-1538; 29790387

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Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

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Genotyping protocol

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EMMA conditions
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B6.129S4-Gjb1tm1Kwi/Cnrm