B6Brd;B6N-Tyrc-Brd Gbe1tm1a(KOMP)Wtsi/Wtsi

Status

Available to order

EMMA IDEM:12026
International strain nameB6Brd;B6N-Tyrc-Brd Gbe1tm1a(KOMP)Wtsi/Wtsi
Alternative nameEPD0164_6_A02
Strain typeTargeted Mutant Strains
Allele/Transgene symbolGbe1tm1a(KOMP)Wtsi,
Gene/Transgene symbolGbe1
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 EPD0164_6_A02. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic informationPotential phenotyping data in the IMPC portal
ReferencesNone available

Information from EMMA

Archiving centreWellcome Trust Sanger Institute, Hinxton, United Kingdom
Animals used for archivingheterozygous C57BL/6Brd-Tyr;C57BL/6N

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

    • Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form / Orphanet_308638
    • Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form / Orphanet_308698
    • Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form / Orphanet_308621
    • Adult polyglucosan body disease / Orphanet_206583
    • Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form / Orphanet_308655
    • Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form / Orphanet_308712
    • Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form / Orphanet_308684
    • Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form / Orphanet_308670
IMPC phenotypes (allele matching)
  • preweaning lethality, complete penetrance / IMPC

Register interest

Availabilities

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

    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)
    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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