MGI phenotypes (allele matching)
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
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