- abnormal cerebellum morphology / MGI
- hypoactivity / MGI
- decreased vertical activity / MGI
- abnormal brain white matter morphology / MGI
- abnormal oligodendrocyte physiology / MGI
- microgliosis / MGI
- increased oligodendrocyte number / MGI
- Purkinje cell degeneration / MGI
- abnormal myelination / MGI
- abnormal motor learning / MGI
- astrocytosis / MGI
- abnormal cerebellum white matter morphology / MGI
B6.Cg-Gjc2tm2.1Kwi/Cnrm
Status | Available to order |
EMMA ID | EM:05446 |
Citation information | RRID:IMSR_EM:05446 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.Cg-Gjc2tm2.1Kwi/Cnrm |
Alternative name | Cx47M282T |
Strain type | Targeted Mutant Strains : Knock-in |
Allele/Transgene symbol | Gjc2tm2.1Kwi |
Gene/Transgene symbol | Gjc2 |
Information from provider
Provider | Klaus WILLECKE |
Provider affiliation | Molekulargenetik, Institut fuer Genetik, Universitaet Bonn |
Genetic information | In this mouse line the Cx47 (Gjc2) coding DNA is replaced by the Cx47M282T point mutation followed by an IRES-LacZ reporter DNA. The point mutation and the reporter gene are controlled by the endogenous Cx47 promoter. |
Phenotypic information | Homozygous Cx47M282T mutants show myelin deficits during early developmental stages (hypermyelination) accompanied by myelin vacuolation. |
Breeding history | Founder animals were backcrossed to C57BL/6 nine times (more than 99%). |
References |
|
Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
MGI allele-associated human disease models
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
- Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans.;Tress Oliver, Maglione Marta, Zlomuzica Armin, May Dennis, Dicke Nikolai, Degen Joachim, Dere Ekrem, Kettenmann Helmut, Hartmann Dieter, Willecke Klaus, ;2011;PLoS genetics;7;e1002146; 21750683
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