B6;129P2-Gjc2tm1(EGFP)Kwi/Cnrm
Status | Available to order |
EMMA ID | EM:00244 |
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 (allele matching)
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
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