- 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 |
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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