C57BL/6N-Ryr2tm1a(KOMP)Wtsi/H

Status

Available to order

EMMA IDEM:07322
Citation informationRRID:IMSR_EM:07322 

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-Ryr2tm1a(KOMP)Wtsi/H
Alternative nameEPD0585_3_C09
Strain typeTargeted Mutant Strains
Allele/Transgene symbolRyr2tm1a(KOMP)Wtsi
Gene/Transgene symbolRyr2
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 mouse line originates from KOMP ES clone EPD0585_3_C09. 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

    • Catecholaminergic polymorphic ventricular tachycardia / Orphanet_3286
    • Familial isolated arrhythmogenic ventricular dysplasia, right dominant form / Orphanet_293910
    • Familial isolated arrhythmogenic ventricular dysplasia, biventricular form / Orphanet_293899
    • Familial isolated arrhythmogenic ventricular dysplasia, left dominant form / Orphanet_293888
IMPC phenotypes (gene matching)
  • preweaning lethality, complete penetrance / IMPC
  • increased startle reflex / IMPC
MGI phenotypes (gene matching)
  • abnormal heart morphology / MGI
  • enlarged heart / MGI
  • abnormal myocardial fiber morphology / MGI
  • altered response to myocardial infarction / MGI
  • decreased body weight / MGI
  • abnormal cardiovascular system physiology / MGI
  • cardiac hypertrophy / MGI
  • irregular heartbeat / MGI
  • no abnormal phenotype detected / MGI
  • abnormal myocardial trabeculae morphology / MGI
  • disorganized myocardium / MGI
  • large lymphoid organs / MGI
  • abnormal spleen white pulp morphology / MGI
  • heart left ventricle hypertrophy / MGI
  • increased heart weight / MGI
  • increased susceptibility to pharmacologically induced seizures / MGI
  • thick ventricular wall / MGI
  • abnormal cardiac muscle contractility / MGI
  • no phenotypic analysis / MGI
  • abnormal epicardium morphology / MGI
  • cardiac fibrosis / MGI
  • nervous system phenotype / MGI
  • abnormal heart right ventricle morphology / MGI
  • abnormal heart left ventricle morphology / MGI
  • embryonic growth retardation / MGI
  • tonic-clonic seizures / MGI
  • absent heartbeat / MGI
  • abnormal sarcoplasmic reticulum morphology / MGI
  • fetal growth retardation / MGI
  • abnormal myocardial fiber physiology / MGI
  • altered response of heart to induced stress / MGI
  • increased response of heart to induced stress / MGI
  • increased spleen weight / MGI
  • increased thymus weight / MGI
  • abnormal brain wave pattern / MGI
  • decreased cardiac muscle contractility / MGI
  • abnormal mesenteric lymph node morphology / MGI
  • cardiomyopathy / MGI
  • decreased heart rate / MGI
  • renal/urinary system phenotype / MGI
  • growth/size/body region phenotype / MGI
  • cardiovascular system phenotype / MGI
  • behavior/neurological phenotype / MGI
  • immune system phenotype / MGI
  • decreased ventricle muscle contractility / MGI
  • ventricular fibrillation / MGI
  • enlarged mesenteric lymph nodes / MGI
  • atrial fibrillation / MGI
  • decreased survivor rate / MGI
  • abnormal fetal cardiomyocyte morphology / MGI
  • increased physiological sensitivity to xenobiotic / MGI
  • ventricular tachycardia / MGI
  • thymus cortex hyperplasia / MGI
  • ventricular premature beat / MGI
  • increased sensitivity to induced morbidity/mortality / MGI
  • thick interventricular septum / MGI
  • thin interventricular septum / MGI
  • postnatal lethality, complete penetrance / MGI
  • prenatal lethality, complete penetrance / MGI
  • embryonic lethality, complete penetrance / MGI
  • embryonic lethality during organogenesis, complete penetrance / MGI
  • lethality throughout fetal growth and development, incomplete penetrance / MGI

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