MGI phenotypes (allele matching)
B6;129P2-Gjc2tm1(EGFP)Kwi/Cnrm
| Status | Available to order |
| EMMA ID | EM:00244 |
| Citation information | RRID:IMSR_EM:00244 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | B6;129P2-Gjc2tm1(EGFP)Kwi/Cnrm |
| Alternative name | Cx47 KO (eGFP) |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Gjc2tm1(EGFP)Kwi |
| Gene/Transgene symbol | Gjc2 |
Information from provider
| Provider | Klaus WILLECKE |
| Provider affiliation | Molekulargenetik, Institut fuer Genetik, Universitaet Bonn |
| Genetic information | The Gjc2 (connexin 47) exon 2 (including the Gjc2 whole open reading frame) is homologously replaced by the open reading frame of eGFP; the selection marker gene (HPRT) is maintained in the genome. |
| Phenotypic information | Myelin vacuolation. |
| 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
Orphanet associated rare diseases, based on orthologous gene matching
- Pelizaeus-Merzbacher-like disease due to GJC2 mutation / Orphanet_280282
- Autosomal recessive spastic paraplegia type 44 / Orphanet_320401
- Milroy disease / Orphanet_79452
MGI phenotypes (gene matching)
- abnormal cerebellum morphology / MGI
- Purkinje cell degeneration / MGI
- abnormal myelination / MGI
- hypoactivity / MGI
- abnormal brain morphology / MGI
- no abnormal phenotype detected / MGI
- neurodegeneration / MGI
- decreased vertical activity / MGI
- abnormal motor learning / MGI
- astrocytosis / MGI
- abnormal brain white matter morphology / MGI
- abnormal oligodendrocyte physiology / MGI
- microgliosis / MGI
- abnormal cerebellum white matter morphology / MGI
- increased oligodendrocyte number / MGI
Literature references
- Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS.;Odermatt Benjamin, Wellershaus Kerstin, Wallraff Anke, Seifert Gerald, Degen Joachim, Euwens Carsten, Fuss Babette, Büssow Heinrich, Schilling Karl, Steinhäuser Christian, Willecke Klaus, ;2003;The Journal of neuroscience : the official journal of the Society for Neuroscience;23;4549-59; 12805295
- 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
- Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X.;Kagiava A, Richter J, Tryfonos C, Karaiskos C, Heslegrave A J, Sargiannidou I, Rossor A M, Zetterberg H, Reilly M M, Christodoulou C, Kleopa K A, ;2019;Human molecular genetics;28;3528-3542; 31411673
- 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
- Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling.;Wasseff Sameh K, Scherer Steven S, ;2011;Neurobiology of disease;42;506-13; 21396451