C57BL/6NTac-Coq9tm1a(KOMP)Wtsi/WtsiH

Status

Available to order

EMMA IDEM:14051
Citation informationRRID:IMSR_EM:14051 

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 nameC57BL/6NTac-Coq9tm1a(KOMP)Wtsi/WtsiH
Alternative nameEPD0112_2_A09
Strain typeTargeted Mutant Strains
Allele/Transgene symbolCoq9tm1a(KOMP)Wtsi
Gene/Transgene symbolCoq9
DisclaimerPlease note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
  1. We can not guarantee a null mutation for Knock-out first alleles (tm1a alleles, see http://www.mousephenotype.org/about-ikmc/targeting-strategies) as the critical exon has not been deleted.
  2. That the structure of the targeted mutation in the ES cells obtained from EUCOMM/KOMP to generate EUCOMM/KOMP mice is not verified by INFRAFRONTIER/EMMA. It is recommended that the recipient confirms the mutation structure.
  3. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA.
  4. The level of quality control before mice are released is to confirm the individual mouse genotype by short range PCR.

Information from provider

Provider Wellcome Trust Sanger Institute
Provider affiliationWellcome Trust Sanger Institute
Genetic informationThis mouse line originates from KOMP ES clone EPD0112_2_A09. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic informationPotential phenotyping data in the IMPC portal
References
  • Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.;White Jacqueline K, Gerdin Anna-Karin, Karp Natasha A, Ryder Ed, Buljan Marija, Bussell James N, Salisbury Jennifer, Clare Simon, Ingham Neil J, Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R, Melvin David G, Sunter David, Adams Niels C, null null, Tannahill David, Logan Darren W, Macarthur Daniel G, Flint Jonathan, Mahajan Vinit B, Tsang Stephen H, Smyth Ian, Watt Fiona M, Skarnes William C, Dougan Gordon, Adams David J, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, ;2013;Cell;154;452-64; 23870131

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

    • Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome / Orphanet_319678
MGI phenotypes (gene matching)
  • myopathy / MGI
  • hindlimb paralysis / MGI
  • demyelination / MGI
  • decreased body weight / MGI
  • weight loss / MGI
  • decreased body size / MGI
  • hypoactivity / MGI
  • abnormal gait / MGI
  • premature death / MGI
  • gliosis / MGI
  • spongiform encephalopathy / MGI
  • decreased vertical activity / MGI
  • cardiac fibrosis / MGI
  • increased neuron apoptosis / MGI
  • astrocytosis / MGI
  • oxidative stress / MGI
  • premature hair loss / MGI
  • abnormal enzyme/coenzyme level / MGI
  • abnormal mitochondrial physiology / MGI
  • brain vacuoles / MGI
  • abnormal dendrite morphology / MGI
  • abnormal mitochondrial ATP synthesis coupled electron transport / MGI

Literature references

  • Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.;White Jacqueline K, Gerdin Anna-Karin, Karp Natasha A, Ryder Ed, Buljan Marija, Bussell James N, Salisbury Jennifer, Clare Simon, Ingham Neil J, Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R, Melvin David G, Sunter David, Adams Niels C, null null, Tannahill David, Logan Darren W, Macarthur Daniel G, Flint Jonathan, Mahajan Vinit B, Tsang Stephen H, Smyth Ian, Watt Fiona M, Skarnes William C, Dougan Gordon, Adams David J, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, ;2013;Cell;154;452-64; 23870131
  • The treatment of primary CoQ deficiency requires the targeting of multiple pathogenic mechanisms.;González-García Pilar, Jiménez-Sánchez Laura, Corral-Sarasa Julia, López-Herrador Sergio, Torres-Rusillo Sara, Díaz-Casado María Elena, López Luis C, ;2025;Communications medicine;5;286; 40640372

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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*
  • Tissue - Types of tissue, service fee and delivery time available upon request

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
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