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Experiment

Measurement of standard energy expenditure at 22C in Control and RyR1-R163C
Heterozygotes (female cohorts 2 &3, male cohort2)
Summary Data Summary
Investigator Pessah, Isaac
Description Examine effect of Ryr1 mutation on energy expenditure in temperature-challenged
male and female mice (cohort2)

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): Metabolism, Cardiovascular
Status Completed
Public Release 6/24/2017
Animal Age Measured In: day(s) post-natal (d)
Flags has-data-flagSame StrainExperiment Description
Data Analysis
TypeCount
Animals24
Experimental Conditions2
Catalog Items1
Curation Info (# flags)2
Phenotype Assays31
Phenotype Measurements744
Histology Images0
Publications0
Phenotypes3


Animals

Strain NameCommon NameFemalesMalesUnknown
C57BL/6J +/+
8
4
0
RyR1-R163C
8
4
0


Experimental Conditions
NameUnits
Experimental Groupone of [Control, Control-Het, ...]
Mouse Dietone of [3mAIN76(HF0.18), 3mAIN76(HF0.18)early, ...]



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