- 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
B6.129S4-Gjb1tm1Kwi/Cnrm
Status | Available to order |
EMMA ID | EM:00243 |
International strain name | B6.129S4-Gjb1tm1Kwi/Cnrm |
Alternative name | Cx32 KO |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Gjb1tm1Kwi, |
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 |
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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
MGI allele-associated human disease models
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)
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
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