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Experiment

Measurement of standard energy expenditure at 22C in Control and RyR1-R163C
Heterozygotes (MALES-cohort1)
Summary Data Summary
Investigator Pessah, Isaac
Description Examine effect of Ryr1 mutation on energy expenditure in temperature-challenged
male mice

MH is a life-threatening pharmacogenetic syndrome, which occurs when susceptible
individuals are exposed to triggering agents, such as halogenated inhalation
anesthetics and/or depolarizing muscle relaxants. MH susceptibility is
associated with a dysfunction of regulation of intracellular resting Ca2+
concentration ([Ca2+]r) and is characterized by the occurrence of a robust
increase in [Ca2+]r in response to exposure to halothane. In more than 70% of
humans with MH susceptibility (MHS) the trait is linked to one of >185 mutations
within RYR1 located on ch19q13.1, the gene that encodes the type 1 skeletal
isoform of the ryanodine receptor (RYR1), the primary Ca2+ release channel in
the sarcoplasmic reticulum (SR). In addition, mutations in CACNA1S on ch1q31–32,
which codes for CaV1.1 have also been found in 2% of MHS individuals.

Applicable research area(s): Cardiovascular, Metabolism
Status Completed
Public Release 6/23/2017
Animal Age Measured In: day(s) post-natal (d)
Flags has-data-flagSame StrainMetadataExperiment Description
Data Analysis
TypeCount
Animals8
Experimental Conditions2
Catalog Items1
Curation Info (# flags)3
Phenotype Assays31
Phenotype Measurements248
Histology Images0
Publications0
Phenotypes2


Animals
Strain NameCommon NameFemalesMalesUnknown
C57BL/6J +/+
0
4
0
RyR1-R163C
0
4
0

Animals/Strains
Experimental Factors
 Categorical Values
Name / AbbreviationDescription

Experimental Factor: Experimental Group

 Control
This animal belongs to the control group for the experiment.
 Experiment-Het
This animal belongs to the experimental group and is heterozygous wild type/mutation for the affected locus.

Experimental Factor: Mouse Diet

 Teklad - 2918
Harlan-Teklad 2918 (Irradiated) 18.6% protein (Calories : 24% protein, 18% Fat, 58% Carbohydrate) Ingredients—Ground wheat, ground corn, wheat middlings, dehulled soybean meal, corn gluten meal, soybean oil, calcium carbonate, brewers dried yeast,...
Experimental Factor (Units)
Experimental Group
Mouse Diet
Experimental Factor Values


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