C57BL/6N-Agltm1c(EUCOMM)Wtsi/H

Status

Available to order

EMMA IDEM:09754
Citation informationRRID:IMSR_EM:09754 

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/6N-Agltm1c(EUCOMM)Wtsi/H
Alternative nameEPD0371_2_E12
Strain typeTargeted Mutant Strains : Targeted Conditional
Allele/Transgene symbolAgltm1c(EUCOMM)Wtsi
Gene/Transgene symbolAgl
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 MRC, Medical Research Council
Provider affiliationMary Lyon Centre at MRC Harwell
Genetic informationThis line originates from EUCOMM ES clone EPD0371_2_E12, after breeding with a Flp recombinase deleter line to convert the original targeted allele tm1a (knock-out first allele) into a conditional allele tm1c. 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 centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

    • Glycogen storage disease due to glycogen debranching enzyme deficiency / Orphanet_366
IMPC phenotypes (gene matching)
  • increased circulating creatine kinase level / IMPC
  • increased circulating amylase level / IMPC
  • increased kidney weight / IMPC
  • cataract / IMPC
  • increased lean body mass / IMPC
  • increased circulating cholesterol level / IMPC
  • increased circulating alkaline phosphatase level / IMPC
  • decreased bone mineral content / IMPC
  • increased fasting circulating glucose level / IMPC
  • decreased bone mineral density / IMPC
  • impaired glucose tolerance / IMPC
  • increased heart weight / IMPC
  • increased circulating alanine transaminase level / IMPC
  • abnormal gait / IMPC
  • decreased total body fat amount / IMPC
  • tremors / IMPC
  • increased circulating bilirubin level / IMPC
  • increased circulating aspartate transaminase level / IMPC
  • increased circulating iron level / IMPC
  • preweaning lethality, incomplete penetrance / IMPC
  • decreased circulating glucose level / IMPC
MGI phenotypes (gene matching)
  • kyphosis / MGI
  • hypoglycemia / MGI
  • abnormal liver morphology / MGI
  • enlarged liver / MGI
  • abnormal hepatocyte morphology / MGI
  • muscle weakness / MGI
  • hypoactivity / MGI
  • impaired coordination / MGI
  • abnormal gait / MGI
  • premature death / MGI
  • increased circulating alanine transaminase level / MGI
  • increased circulating alkaline phosphatase level / MGI
  • liver fibrosis / MGI
  • increased circulating aspartate transaminase level / MGI
  • increased glycogen level / MGI
  • decreased circulating glucose level / MGI
  • increased pulmonary respiratory rate / MGI
  • decreased grip strength / MGI
  • increased circulating creatine kinase level / MGI
  • increased liver glycogen level / MGI
  • increased skeletal muscle glycogen level / MGI
  • impaired exercise endurance / MGI
  • decreased fasted circulating glucose level / MGI
  • increased cardiac muscle glycogen level / MGI
  • increased brain glycogen level / MGI

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Practical information

Genotyping protocol

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