B6.Cg-Dnajc11m1Edou/Flmg

Status

Available to order

EMMA IDEM:09005
Citation informationRRID:IMSR_EM:09005 

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International strain nameB6.Cg-Dnajc11m1Edou/Flmg
Alternative nameB6-DnaJC11/Flmg
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolDnajc11spc
Gene/Transgene symbolDnajc11

Information from provider

ProviderEleni Douni
Provider affiliationBSRC Al. Fleming
Genetic informationDnaJC spc/spc mice carry a hypomorphic mutation in the Dnajc11 gene caused by an intronic T to A transition. This point mutation generated a new splice acceptor site leading to the incorporation of the 109 bp intronic sequence into the mature transcript of 63 kDa isoform of the Dnajc11 gene product. This insertion changed the reading frame and was predicted to result in the replacement of the 51 C-terminal amino acids of the protein by 43 different ones.
Phenotypic informationHomozygous:
Homozygous mutants develop an autosomal recessive neuromuscular pathology characterized by locomotion defects, muscle weakness, spasticity, limb tremor, leucopenia, thymic and splenic hypoplasia, general wasting and early lethality.

Heterozygous:
No overt phenotype
References
  • A splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in mice.;Ioakeimidis Fotis, Ott Christine, Kozjak-Pavlovic Vera, Violitzi Foteini, Rinotas Vagelis, Makrinou Eleni, Eliopoulos Elias, Fasseas Costas, Kollias George, Douni Eleni, ;2014;PloS one;9;e104237; 25111180
Homozygous fertileno
Homozygous viableno
Homozygous matings requiredno
Immunocompromisednot known

Information from EMMA

Archiving centreB.S.R.C. Alexander Fleming, Vari, Greece
Animals used for archivingheterozygous C57BL/6J males

Disease and phenotype information

MGI phenotypes (gene matching)
  • decreased leukocyte cell number / MGI
  • spleen hypoplasia / MGI
  • tremors / MGI
  • progressive muscle weakness / MGI
  • abnormal motor neuron morphology / MGI
  • abnormal locomotor behavior / MGI
  • limb grasping / MGI
  • postnatal growth retardation / MGI
  • thymus hypoplasia / MGI
  • premature death / MGI
  • decreased erythrocyte cell number / MGI
  • abnormal limb posture / MGI
  • decreased thymus weight / MGI
  • decreased B cell number / MGI
  • increased double-negative T cell number / MGI
  • decreased double-positive T cell number / MGI
  • cachexia / MGI
  • hematopoietic system phenotype / MGI
  • brain vacuoles / MGI
  • increased CD4-positive, alpha beta T cell number / MGI
  • increased CD8-positive, alpha-beta T cell number / MGI
  • increased DN1 thymic pro-T cell number / MGI
  • disorganized mitochondrial cristae / MGI
  • spasticity / MGI
  • thymus cortex atrophy / MGI
  • enlarged thymus medulla / MGI

Literature references

  • A splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in mice.;Ioakeimidis Fotis, Ott Christine, Kozjak-Pavlovic Vera, Violitzi Foteini, Rinotas Vagelis, Makrinou Eleni, Eliopoulos Elias, Fasseas Costas, Kollias George, Douni Eleni, ;2014;PloS one;9;e104237; 25111180

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Order

Availabilities

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

  • Frozen sperm. 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

Genotyping protocol

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

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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