B6.Cg-Gjc2tm2.1Kwi/Cnrm

Status

Available to order

EMMA IDEM:05446
International strain nameB6.Cg-Gjc2tm2.1Kwi/Cnrm
Alternative nameCx47M282T
Strain typeTargeted Mutant Strains : Knock-in
Allele/Transgene symbolGjc2tm2.1Kwi,
Gene/Transgene symbolGjc2

Information from provider

ProviderKlaus WILLECKE
Provider affiliationMolekulargenetik, Institut fuer Genetik, Universitaet Bonn
Genetic informationIn 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 informationHomozygous Cx47M282T mutants show myelin deficits during early developmental stages (hypermyelination) accompanied by myelin vacuolation.
Breeding historyFounder animals were backcrossed to C57BL/6 nine times (more than 99%).
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
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreCNR, 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

MGI phenotypes (allele matching)
  • 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

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

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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